{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T20:14:35Z","timestamp":1790540075345,"version":"4.1.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2013,8,31]],"date-time":"2013-08-31T00:00:00Z","timestamp":1377907200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1007\/s13353-013-0168-7","type":"journal-article","created":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T11:07:37Z","timestamp":1377860857000},"page":"455-460","source":"Crossref","is-referenced-by-count":22,"title":["Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma\/Gypsies in Slovakia"],"prefix":"10.1007","volume":"54","author":[{"given":"Dana","family":"Gabrikova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Mistrik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarmila","family":"Bernasovska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Bozikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Behulova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iveta","family":"Tothova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sona","family":"Macekova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,31]]},"reference":[{"issue":"4","key":"168_CR1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/S0960-8966(99)00017-6","volume":"9","author":"Anonymous","year":"1999","unstructured":"Anonymous (1999) 4th Workshop of the European CMT-Consortium\u201462nd ENMC International Workshop: rare forms of Charcot\u2013Marie\u2013Tooth disease and related disorders 16\u201318 October 1998, Soestduinen, The Netherlands. Neuromuscul Disord 9(4):279\u2013287","journal-title":"Neuromuscul Disord"},{"key":"168_CR2","doi-asserted-by":"crossref","unstructured":"Banchs I, Casasnovas C, Albert\u00ed A, De Jorge L, Povedano M, Montero J, Mart\u00ednez-Matos J, Volpini V (2009) Diagnosis of Charcot-Marie-Tooth disease. J Biomed Biotechnol 2009","DOI":"10.1155\/2009\/985415"},{"issue":"3","key":"168_CR3","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.nrl.2011.04.015","volume":"27","author":"J Berciano","year":"2012","unstructured":"Berciano J, Sevilla T, Casasnovas C, Sivera R, V\u00edlchez JJ, Infante J, Ram\u00f3n C, Pelayo-Negro AL, Illa I; Programa 3 (Enfermedades Neuromusculares) del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED) del Instituto de Salud Carlos III (2012) Guidelines for molecular diagnosis of Charcot\u2013Marie\u2013Tooth disease. Neurologia 27(3):169\u2013178. doi: 10.1016\/j.nrl.2011.04.015","journal-title":"Neurologia"},{"key":"168_CR4","unstructured":"Bird TD (1998) Charcot\u2013Marie\u2013Tooth hereditary neuropathy overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (eds) GeneReviews\u2122 [Internet]. University of Washington, Seattle. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1358\/ . Accessed 22 January 2013"},{"issue":"1","key":"168_CR5","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/1531-8249(199907)46:1<36::AID-ANA7>3.0.CO;2-J","volume":"46","author":"D Butinar","year":"1999","unstructured":"Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, Sininger Y, Keats B, Starr A (1999) Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol 46(1):36\u201344","journal-title":"Ann Neurol"},{"issue":"4","key":"168_CR6","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/j.1399-0004.2007.00774.x","volume":"71","author":"R Claramunt","year":"2007","unstructured":"Claramunt R, Sevilla T, Lupo V, Cuesta A, Mill\u00e1n JM, V\u00edlchez JJ, Palau F, Espin\u00f3s C (2007) The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot\u2013Marie\u2013Tooth disease type 4. Clin Genet 71(4):343\u2013349","journal-title":"Clin Genet"},{"issue":"4","key":"168_CR7","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1002\/1531-8249(199910)46:4<639::AID-ANA13>3.0.CO;2-1","volume":"46","author":"R Croxen","year":"1999","unstructured":"Croxen R, Newland C, Betty M, Vincent A, Newsom-Davis J, Beeson D (1999) Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. Ann Neurol 46(4):639\u2013647","journal-title":"Ann Neurol"},{"issue":"2","key":"168_CR8","first-page":"59","volume":"27","author":"J Dackovi\u0107","year":"2008","unstructured":"Dackovi\u0107 J, Keckarevi\u0107-Markovi\u0107 M, Komazec Z, Rakocevi\u0107-Stojanovi\u0107 V, Lavrni\u0107 D, Stevi\u0107 Z, Ribari\u0107 K, Romac S, Apostolski S (2008) Hereditary motor and sensory neuropathy Lom type in a Serbian family. Acta Myol 27(2):59\u201362","journal-title":"Acta Myol"},{"issue":"3","key":"168_CR9","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1055\/s-0038-1649861","volume":"74","author":"C Salle de la","year":"1995","unstructured":"de la Salle C, Schwartz A, Baas MJ, Lanza F, Cazenave JP (1995) Detection by PCR and HphI restriction analysis of a splice site mutation at the 5\u2032 end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann\u2019s thrombasthenia type I in Gypsies originating from the Strasbourg area. Thromb Haemost 74(3):990\u2013991","journal-title":"Thromb Haemost"},{"issue":"1\u20132","key":"168_CR10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1385\/NMM:8:1-2:75","volume":"8","author":"O Dubourg","year":"2006","unstructured":"Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E (2006) Autosomal-recessive forms of demyelinating Charcot\u2013Marie\u2013Tooth disease. Neuromolecular Med 8(1\u20132):75\u201386","journal-title":"Neuromolecular Med"},{"issue":"2","key":"168_CR11","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.nmd.2006.10.002","volume":"17","author":"A Echaniz-Laguna","year":"2007","unstructured":"Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, L\u00e9vy N, Leheup B (2007) NDRG1-linked Charcot\u2013Marie\u2013Tooth disease (CMT4D) with central nervous system involvement. Neuromuscul Disord 17(2):163\u2013168","journal-title":"Neuromuscul Disord"},{"key":"168_CR12","unstructured":"Fer\u00e1k V, Siv\u00e1kov\u00e1 D, Sieglov\u00e1 Z (1987) [The Slovak gypsies (Romany)--a population with the highest coefficient of inbreeding in Europe]. Bratisl Lek Listy 87(2):168\u2013175"},{"issue":"5","key":"168_CR13","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1136\/jnnp.66.5.569","volume":"66","author":"A Gabre\u00ebls-Festen","year":"1999","unstructured":"Gabre\u00ebls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabre\u00ebls F, van Engelen B, Mariman E (1999) Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot\u2013Marie\u2013Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 66(5):569\u2013574","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"12","key":"168_CR14","doi-asserted-by":"crossref","first-page":"e69","DOI":"10.1136\/jmg.2005.034132","volume":"42","author":"R Gooding","year":"2005","unstructured":"Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L (2005) A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet 42(12):e69\u2013e69","journal-title":"J Med Genet"},{"issue":"1","key":"168_CR15","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1177\/08830738060210010401","volume":"21","author":"V Guergueltcheva","year":"2006","unstructured":"Guergueltcheva V, Tournev I, Bojinova V, Hantke J, Litvinenko I, Ishpekova B, Shmarov A, Petrova J, Jordanova A, Kalaydjieva L (2006) Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot\u2013Marie\u2013Tooth disease in the Roma (Gypsies). J Child Neurol 21(1):20\u201325","journal-title":"J Child Neurol"},{"issue":"12","key":"168_CR16","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1038\/ejhg.2009.99","volume":"17","author":"J Hantke","year":"2009","unstructured":"Hantke J, Chandler D, King R, Wanders RJA, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L (2009) A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy\u2014Russe (HMSNR). Eur J Hum Genet 17(12):1606\u20131614","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"168_CR17","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/humu.10240","volume":"22","author":"M Hunter","year":"2003","unstructured":"Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochm\u00fcller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L (2003) Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot\u2013Marie\u2013Tooth Disease. Hum Mutat 22(2):129\u2013135","journal-title":"Hum Mutat"},{"issue":"2","key":"168_CR18","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.1320490215","volume":"49","author":"J Kalanin","year":"1994","unstructured":"Kalanin J, Takarada Y, Kagawa S, Yamashita K, Ohtsuka N, Matsuoka A (1994) Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. Am J Med Genet 49(2):235\u2013239","journal-title":"Am J Med Genet"},{"issue":"3","key":"168_CR19","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1093\/brain\/121.3.399","volume":"121","author":"L Kalaydjieva","year":"1998","unstructured":"Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK (1998) Hereditary motor and sensory neuropathy\u2014Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 121(3):399\u2013408","journal-title":"Brain"},{"issue":"5","key":"168_CR20","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1086\/302611","volume":"65","author":"L Kalaydjieva","year":"1999","unstructured":"Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R (1999) A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 65(5):1299\u20131307","journal-title":"Am J Hum Genet"},{"issue":"1","key":"168_CR21","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1086\/302978","volume":"67","author":"L Kalaydjieva","year":"2000","unstructured":"Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67(1):47\u201358","journal-title":"Am J Hum Genet"},{"key":"168_CR22","doi-asserted-by":"crossref","unstructured":"Kalaydjieva L, Morar B, Chaix R, Tang H (2005) A newly discovered founder population: the Roma\/Gypsies. Bioessays 27(10):1084\u20131094","DOI":"10.1002\/bies.20287"},{"issue":"5","key":"168_CR23","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1212\/WNL.54.5.1075","volume":"54","author":"L Merlini","year":"2000","unstructured":"Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM (2000) Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology 54(5):1075\u20131079","journal-title":"Neurology"},{"issue":"4","key":"168_CR24","first-page":"549","volume":"22","author":"G Min\u00e1rik","year":"2003","unstructured":"Min\u00e1rik G, Fer\u00e1k V, Fer\u00e1kov\u00e1 E, Ficek A, Pol\u00e1kov\u00e1 H, K\u00e1dasi L (2003) High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 22(4):549\u2013556","journal-title":"Gen Physiol Biophys"},{"issue":"4","key":"168_CR25","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1086\/424759","volume":"75","author":"B Morar","year":"2004","unstructured":"Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L (2004) Mutation history of the Roma\/Gypsies. Am J Hum Genet 75(4):596\u2013609","journal-title":"Am J Hum Genet"},{"issue":"2","key":"168_CR26","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1212\/WNL.0b013e31829a3421","volume":"81","author":"K Nakhro","year":"2013","unstructured":"Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW (2013) SET binding factor 1 (SBF1) mutation causes Charcot\u2013Marie\u2013Tooth disease type 4B3. Neurology 81(2):165\u2013173. doi: 10.1212\/WNL.0b013e31829a3421","journal-title":"Neurology"},{"issue":"12","key":"168_CR27","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1093\/hmg\/5.12.2019","volume":"5","author":"F Piccolo","year":"1996","unstructured":"Piccolo F, Jeanpierre M, Leturcq F, Dod\u00e9 C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tom\u00e9 FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC (1996) A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 5(12):2019\u20132022","journal-title":"Hum Mol Genet"},{"issue":"4","key":"168_CR28","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1136\/jmg.36.4.290","volume":"36","author":"M Pl\u00e1silov\u00e1","year":"1999","unstructured":"Pl\u00e1silov\u00e1 M, Stoilov I, Sarfarazi M, K\u00e1dasi L, Fer\u00e1kov\u00e1 E, Fer\u00e1k V (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 36(4):290\u2013294","journal-title":"J Med Genet"},{"issue":"3","key":"168_CR29","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1086\/303053","volume":"67","author":"T Rogers","year":"2000","unstructured":"Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L (2000) A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet 67(3):664\u2013671","journal-title":"Am J Hum Genet"},{"issue":"1","key":"168_CR30","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","volume":"69","author":"ASD Saporta","year":"2011","unstructured":"Saporta ASD, Sottile SL, Miller LJ, Feely SME, Siskind CE, Shy ME (2011) Charcot\u2013Marie\u2013Tooth disease subtypes and genetic testing strategies. Ann Neurol 69(1):22\u201333","journal-title":"Ann Neurol"},{"issue":"3","key":"168_CR31","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1182\/blood.V86.3.977.977","volume":"86","author":"N Schlegel","year":"1995","unstructured":"Schlegel N, Gayet O, Morel-Kopp MC, Wyler B, Hurtaud-Roux MF, Kaplan C, Mc Gregor J (1995) The molecular genetic basis of Glanzmann\u2019s thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood 86(3):977\u2013982","journal-title":"Blood"},{"issue":"5","key":"168_CR32","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1086\/379525","volume":"73","author":"J Senderek","year":"2003","unstructured":"Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, M\u00fcller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Sch\u00f6neborn S, Z\u00fcchner S, Michael Schr\u00f6der J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, B\u00fcttner R, Nelis E, Zerres K (2003) Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot\u2013Marie\u2013Tooth type 4C neuropathy. Am J Hum Genet 73(5):1106\u20131119","journal-title":"Am J Hum Genet"},{"issue":"6","key":"168_CR33","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/cge.12015","volume":"83","author":"T Sevilla","year":"2013","unstructured":"Sevilla T, Mart\u00ednez-Rubio D, M\u00e1rquez C, Paradas C, Colomer J, Jaijo T, Mill\u00e1n JM, Palau F, Espin\u00f3s C (2013) Genetics of the Charcot\u2013Marie\u2013Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet 83(6):565\u2013570","journal-title":"Clin Genet"},{"issue":"1\u20132","key":"168_CR34","first-page":"51","volume":"60","author":"A Szab\u00f3","year":"2007","unstructured":"Szab\u00f3 A, Siska E, Moln\u00e1r MJ (2007) Hereditary motor and sensory Lom-neuropathy\u2014first Hungarian case report. Ideggyogy Sz 60(1\u20132):51\u201355","journal-title":"Ideggyogy Sz"},{"issue":"5","key":"168_CR35","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/00019052-200010000-00010","volume":"13","author":"PK Thomas","year":"2000","unstructured":"Thomas PK (2000) Autosomal recessive hereditary motor and sensory neuropathy. Curr Opin Neurol 13(5):565\u2013568","journal-title":"Curr Opin Neurol"},{"issue":"4","key":"168_CR36","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/ana.1137","volume":"50","author":"PK Thomas","year":"2001","unstructured":"Thomas PK, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King RH, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Merlini L, Shmarov A, Muddle JR, Nourallah M, Tournev I (2001) Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 50(4):452\u2013457","journal-title":"Ann Neurol"},{"key":"168_CR37","volume-title":"Progn\u00f3za v\u00fdvoja r\u00f3mskeho obyvate\u013estva v SR do roku 2025","author":"B Va\u0148o","year":"2002","unstructured":"Va\u0148o B (2002) Progn\u00f3za v\u00fdvoja r\u00f3mskeho obyvate\u013estva v SR do roku 2025. In\u0161tit\u00fat informatiky a \u0161tatistiky, Bratislava"},{"issue":"2","key":"168_CR38","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/ng1243","volume":"35","author":"R Varon","year":"2003","unstructured":"Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochm\u00fcller H, M\u00fcllner-Eidenb\u00f6ck A, Merlini L, Neumann L, B\u00fcrger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L (2003) Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35(2):185\u2013189","journal-title":"Nat Genet"},{"issue":"3","key":"168_CR39","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1086\/515497","volume":"61","author":"B Veldhuisen","year":"1997","unstructured":"Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, N\u00f8rby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ (1997) A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61(3):547\u2013555","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-013-0168-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13353-013-0168-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-013-0168-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,4]],"date-time":"2023-07-04T06:01:05Z","timestamp":1688450465000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13353-013-0168-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,31]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["168"],"URL":"https:\/\/doi.org\/10.1007\/s13353-013-0168-7","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,31]]}}}