{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T23:01:20Z","timestamp":1789599680661,"version":"build-2803163510"},"reference-count":70,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_cclm-2016-0819_s_999\">\n<jats:title id=\"d557296e64717\">Background:<\/jats:title>\n<jats:p>Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, <jats:italic>NPHP1<\/jats:italic>, with a minor allele frequency of 0.24% in the general population, is the most common mutation leading to a monogenic form of childhood chronic renal failure. It is challenging to detect it in the heterozygous state. We aimed to evaluate the sensitivity and the specificity of the quantitative multiplex PCR of short fluorescent fragments (QMPSF) in its detection.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_cclm-2016-0819_s_998\">\n<jats:title id=\"d557296e64728\">Methods:<\/jats:title>\n<jats:p>After setting up the protocol of QMPSF, we validated it on 39 individuals diagnosed by multiplex ligation-dependent probe amplification (MLPA) with normal <jats:italic>NPHP1<\/jats:italic> copy number (n=17), with heterozygous deletion (n=13, seven parents and six patients), or with homozygous deletion (n=9). To assess the rate of the deletions that arise from independent events, deleted alleles were haplotyped.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_cclm-2016-0819_s_997\">\n<jats:title id=\"d557296e64739\">Results:<\/jats:title>\n<jats:p>The results of QMPSF and MLPA correlated perfectly in the identification of 76 heterozygously deleted and 56 homozygously deleted exons. The inter-experimental variability of the dosage quotient obtained by QMPSF was low: control, 1.05 (median; range, 0.86\u22121.33, n = 102 exons); heterozygous deletion, 0.51 (0.42\u22120.67, n = 76 exons); homozygous deletion, 0 (0\u22120, n = 56 exons). All patients harboring a heterozygous deletion were found to carry a hemizygous mutation. At least 15 out of 18 deletions appeared on different haplotypes and one deletion appeared <jats:italic>de novo<\/jats:italic>.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_cclm-2016-0819_s_996\">\n<jats:title id=\"d557296e64750\">Conclusions:<\/jats:title>\n<jats:p>The cost- and time-effective QMPSF has a 100% sensitivity and specificity in the detection of <jats:italic>NPHP1<\/jats:italic> deletion. The potential <jats:italic>de novo<\/jats:italic> appearance of <jats:italic>NPHP1<\/jats:italic> deletions makes its segregation analysis highly recommended in clinical practice.<\/jats:p><\/jats:sec>","DOI":"10.1515\/cclm-2016-0819","type":"journal-article","created":{"date-parts":[[2016,12,21]],"date-time":"2016-12-21T10:01:35Z","timestamp":1482314495000},"page":"809-816","source":"Crossref","is-referenced-by-count":7,"title":["QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions"],"prefix":"10.1515","volume":"55","author":[{"given":"Eszter","family":"J\u00e1vorszky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Kerti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eszter","family":"Balogh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henriett","family":"Pik\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Karcagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref531","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.ejmg.2015.07.002","article-title":"Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients","volume":"58","year":"2015","journal-title":"Eur J Med Genet"},{"key":"ref611","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/0888-7543(95)80034-J","article-title":"Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group","volume":"25","year":"1995","journal-title":"Genomics"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0272-6386(00)70300-3","article-title":"Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening","volume":"35","year":"2000","journal-title":"Am J Kidney Dis"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s11845-015-1312-7","article-title":"Identification of an NPHP1 deletion causing adult form of nephronophthisis","volume":"185","year":"2016","journal-title":"Ir J Med Sci"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"2536","DOI":"10.1093\/ndt\/13.10.2536","article-title":"Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus","volume":"13","year":"1998","journal-title":"Nephrol Dial Transplant"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1007\/s00467-008-0840-z","article-title":"Nephronophthisis","volume":"24","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1046\/j.1523-1755.2001.059002434.x","article-title":"Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis","volume":"59","year":"2001","journal-title":"Kidney Int"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1529-8817.2005.00208.x","article-title":"Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies","volume":"70","year":"2006","journal-title":"Ann Hum Genet"},{"key":"ref651","doi-asserted-by":"crossref","first-page":"e84","DOI":"10.1016\/j.patbio.2012.05.003","article-title":"Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population","volume":"60","year":"2012","journal-title":"Pathol Biol (Paris)"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.gene.2011.12.005","article-title":"A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family","volume":"495","year":"2012","journal-title":"Gene"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","article-title":"Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis","volume":"66","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/5.3.367","article-title":"Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis","volume":"5","year":"1996","journal-title":"Hum Mol Genet"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1093\/hmg\/6.13.2317","article-title":"A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis","volume":"6","year":"1997","journal-title":"Hum Mol Genet"},{"key":"ref671","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1","volume":"17","year":"1997","journal-title":"Nat Genet"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s001090050222","article-title":"Familial juvenile nephronophthisis","volume":"76","year":"1998","journal-title":"J Mol Med (Berl)"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1529-8817.2005.00208.x","article-title":"Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies","volume":"70","year":"2006","journal-title":"Ann Hum Genet"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"2536","DOI":"10.1093\/ndt\/13.10.2536","article-title":"Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus","volume":"13","year":"1998","journal-title":"Nephrol Dial Transplant"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s12031-014-0265-z","article-title":"PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy","volume":"53","year":"2014","journal-title":"J Mol Neurosci"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.ejmg.2015.07.002","article-title":"Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients","volume":"58","year":"2015","journal-title":"Eur J Med Genet"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","year":"2005","journal-title":"Diabetes"},{"key":"ref661","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0272-6386(00)70300-3","article-title":"Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening","volume":"35","year":"2000","journal-title":"Am J Kidney Dis"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1046\/j.1523-1755.2001.059002434.x","article-title":"Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis","volume":"59","year":"2001","journal-title":"Kidney Int"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/5.3.367","article-title":"Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis","volume":"5","year":"1996","journal-title":"Hum Mol Genet"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.gene.2011.12.005","article-title":"A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family","volume":"495","year":"2012","journal-title":"Gene"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1210\/jc.2016-1291","article-title":"Deletion of CPEB1 gene: a rare but recurrent cause of premature ovarian insufficiency (POI)","volume":"101","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1373\/clinchem.2007.101006","article-title":"Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments","volume":"54","year":"2008","journal-title":"Clin Chem"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/ejhg.2013.171","article-title":"Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort","volume":"22","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1038\/sj.ejhg.5201661","article-title":"Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation","volume":"14","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"ref701","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","article-title":"Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis","volume":"66","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/humu.10303","article-title":"Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF","volume":"23","year":"2004","journal-title":"Hum Mutat"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"543","DOI":"10.3324\/haematol.12251","article-title":"Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas","volume":"93","year":"2008","journal-title":"Haematologica"},{"key":"ref631","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s001090050222","article-title":"Familial juvenile nephronophthisis","volume":"76","year":"1998","journal-title":"J Mol Med (Berl)"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1038\/sj.ejhg.5201661","article-title":"Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation","volume":"14","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s12031-014-0265-z","article-title":"PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy","volume":"53","year":"2014","journal-title":"J Mol Neurosci"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1007\/s00467-008-0840-z","article-title":"Nephronophthisis","volume":"24","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1006\/geno.1997.5102","article-title":"Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13","volume":"47","year":"1998","journal-title":"Genomics"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref471","first-page":"649","article-title":"Detection of alpha-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments","volume":"50","year":"2012","journal-title":"Clin Chem Lab Med"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1093\/hmg\/6.13.2317","article-title":"A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis","volume":"6","year":"1997","journal-title":"Hum Mol Genet"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.patbio.2008.03.010","article-title":"Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities","volume":"56","year":"2008","journal-title":"Pathol Biol (Paris)"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1101\/gr.152454.112","article-title":"NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits","volume":"23","year":"2013","journal-title":"Genome Res"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"e84","DOI":"10.1016\/j.patbio.2012.05.003","article-title":"Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population","volume":"60","year":"2012","journal-title":"Pathol Biol (Paris)"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1681\/ASN.2006101164","article-title":"High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations","volume":"18","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2014.07.003","article-title":"Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders","volume":"95","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy","volume":"132","year":"2013","journal-title":"Hum Genet"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","year":"2014","journal-title":"Nat Genet"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1373\/clinchem.2007.101006","article-title":"Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments","volume":"54","year":"2008","journal-title":"Clin Chem"},{"key":"ref111","first-page":"649","article-title":"Detection of alpha-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments","volume":"50","year":"2012","journal-title":"Clin Chem Lab Med"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome","volume":"94","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/0888-7543(95)80034-J","article-title":"Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group","volume":"25","year":"1995","journal-title":"Genomics"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome","volume":"94","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref711","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.gene.2013.10.020","article-title":"Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services","volume":"535","year":"2014","journal-title":"Gene"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/humu.10303","article-title":"Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF","volume":"23","year":"2004","journal-title":"Hum Mutat"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1101\/gr.152454.112","article-title":"NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits","volume":"23","year":"2013","journal-title":"Genome Res"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.gene.2013.10.020","article-title":"Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services","volume":"535","year":"2014","journal-title":"Gene"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","year":"2014","journal-title":"Nat Genet"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.patbio.2008.03.010","article-title":"Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities","volume":"56","year":"2008","journal-title":"Pathol Biol (Paris)"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy","volume":"132","year":"2013","journal-title":"Hum Genet"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2014.07.003","article-title":"Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders","volume":"95","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1186\/s12864-015-1590-5","article-title":"A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease","volume":"16","year":"2015","journal-title":"BMC Genomics"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1210\/jc.2016-1291","article-title":"Deletion of CPEB1 gene: a rare but recurrent cause of premature ovarian insufficiency (POI)","volume":"101","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"543","DOI":"10.3324\/haematol.12251","article-title":"Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas","volume":"93","year":"2008","journal-title":"Haematologica"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1681\/ASN.2006101164","article-title":"High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations","volume":"18","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/ejhg.2013.171","article-title":"Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort","volume":"22","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1006\/geno.1997.5102","article-title":"Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13","volume":"47","year":"1998","journal-title":"Genomics"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1","volume":"17","year":"1997","journal-title":"Nat Genet"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1186\/s12864-015-1590-5","article-title":"A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease","volume":"16","year":"2015","journal-title":"BMC Genomics"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","year":"2005","journal-title":"Diabetes"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s11845-015-1312-7","article-title":"Identification of an NPHP1 deletion causing adult form of nephronophthisis","volume":"185","year":"2016","journal-title":"Ir J Med Sci"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/cclm.2017.55.issue-6\/cclm-2016-0819\/cclm-2016-0819.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0819\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T23:55:59Z","timestamp":1619049359000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0819\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,1]]},"references-count":70,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1515\/cclm-2016-0819","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6,1]]}}}