{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:40:03Z","timestamp":1792060803279,"version":"4.4.0"},"reference-count":51,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[1997,8,1]],"date-time":"1997-08-01T00:00:00Z","timestamp":870393600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5831,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1997,8]]},"DOI":"10.1086\/514844","type":"journal-article","created":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T19:37:51Z","timestamp":1196797071000},"page":"363-369","source":"Crossref","is-referenced-by-count":62,"title":["Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Sch\u00f6nberg Disease) to Chromosome 1p21"],"prefix":"10.1016","volume":"61","author":[{"given":"Wim","family":"Van Hul","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Bollerslev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeppe","family":"Gram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Benichou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Vanhoenacker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/514844_bib1","first-page":"365","article-title":"R\u00f6ntgenbilder einer seltenen Knockenerkrankung","volume":"51","author":"Albers-Sch\u00f6nberg","year":"1904","journal-title":"Munch Med Wochenschr"},{"key":"10.1086\/514844_bib2","doi-asserted-by":"crossref","first-page":"5826","DOI":"10.1073\/pnas.81.18.5826","article-title":"Human c-fos oncogene mapped within chromosomal region 14q21-q31","volume":"81","author":"Barker","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/514844_bib3","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1136\/pgmj.53.622.507","article-title":"A review of the osteopetroses","volume":"53","author":"Beighton","year":"1977","journal-title":"Postgrad Med J"},{"key":"10.1086\/514844_bib4","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1399-0004.1987.tb02774.x","article-title":"Osteopetrosis: a genetic and epidemiological study","volume":"31","author":"Bollerslev","year":"1987","journal-title":"Clin Genet"},{"key":"10.1086\/514844_bib5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1210\/edrv-10-1-45","article-title":"Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects","volume":"10","author":"Beighton","year":"1989","journal-title":"Endocrinol Rev"},{"key":"10.1086\/514844_bib6","first-page":"365","article-title":"Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects: update 1995","volume":"4","author":"Beighton","year":"1995","journal-title":"Endocrinol Rev"},{"key":"10.1086\/514844_bib7","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/8756-3282(88)90021-X","article-title":"Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis","volume":"9","author":"Bollerslev","year":"1988","journal-title":"Bone"},{"key":"10.1086\/514844_bib8","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/8756-3282(93)90316-3","article-title":"Ultrastructural inversigations of bone resorptive cells in two types of autosomal dominant osteopetrosis","volume":"14","author":"Bollerslev","year":"1993","journal-title":"Bone"},{"key":"10.1086\/514844_bib9","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1093\/hmg\/4.12.2363","article-title":"Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3","volume":"4","author":"Cruts","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514844_bib10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/514844_bib11","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0888-7543(90)90523-W","article-title":"Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat","volume":"7","author":"Dracopoli","year":"1990","journal-title":"Genomics"},{"key":"10.1086\/514844_bib12","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","article-title":"Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course","volume":"93","author":"Gerritsen","year":"1994","journal-title":"Pediatrics"},{"key":"10.1086\/514844_bib13","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1182\/blood.V73.6.1742a.1742a","article-title":"The murine M-CSF gene is localized on chromosome 3","volume":"73","author":"Gisselbrecht","year":"1989","journal-title":"Blood"},{"key":"10.1086\/514844_bib14","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1098\/rspb.1935.0060","article-title":"A new sub-lethal color mutation in the house mouse","volume":"118","author":"Gr\u00fcnberg","year":"1935","journal-title":"Proc R Soc Lond B Biol Sci"},{"key":"10.1086\/514844_bib15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02986377","article-title":"Some observations on the microphthalmia gene in the mouse","volume":"49","author":"Gr\u00fcnberg","year":"1948","journal-title":"J Genet"},{"key":"10.1086\/514844_bib16","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993-94 G\u00e9n\u00e9thon human genetic linkage map","volume":"7","author":"Gyapay","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/514844_bib17","doi-asserted-by":"crossref","first-page":"3151","DOI":"10.1242\/dev.122.10.3151","article-title":"Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endo-chondral ossification and mild osteopetrosis","volume":"122","author":"Hayman","year":"1996","journal-title":"Development"},{"key":"10.1086\/514844_bib18","doi-asserted-by":"crossref","first-page":"6425","DOI":"10.1093\/nar\/17.15.6425","article-title":"Kpnl RFLP for the human CSF-1 gene","volume":"17","author":"Heinzmann","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/514844_bib19","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/0092-8674(93)90429-T","article-title":"Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein","volume":"74","author":"Hodgkinson","year":"1993","journal-title":"Cell"},{"key":"10.1086\/514844_bib20","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/S0022-3476(80)80012-6","article-title":"Osteopetrosis: further heterogeneity","volume":"97","author":"Horton","year":"1980","journal-title":"Pediatrics"},{"key":"10.1086\/514844_bib21","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/ng0894-509","article-title":"A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p141","volume":"7","author":"Hughes","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/514844_bib22","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/00005792-196803000-00004","article-title":"Osteopetrosis: a clinical, genetic, metabolic and morphologic study of the dominantly inherited, benign form","volume":"47","author":"Johnston","year":"1968","journal-title":"Medicine"},{"key":"10.1086\/514844_bib23","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ajmg.1320170208","article-title":"A mild autosomal recessive form of osteopetrosis","volume":"17","author":"Kahler","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1086\/514844_bib24","first-page":"405","article-title":"Osteopetrosis","volume":"16","author":"Karschner","year":"1926","journal-title":"Am J Roentgenol"},{"key":"10.1086\/514844_bib25","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1126\/science.2996129","article-title":"Molecular cloning of a complementary DNA encoding human macro-phage-specific colony-stimulating factor (CSF-1)","volume":"230","author":"Kawasaki","year":"1985","journal-title":"Science"},{"key":"10.1086\/514844_bib26","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1002\/j.1460-2075.1987.tb02561.x","article-title":"Human CSF-1: gene structure and alternative splicing of mRNA precursors","volume":"6","author":"Ladner","year":"1987","journal-title":"EMBO J"},{"key":"10.1086\/514844_bib27","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1007\/BF01715356","article-title":"The human macrophage colony-stimulating factor gene is localized at chromosome 1 band p21 and not at 5q33.1","volume":"64","author":"Landegent","year":"1992","journal-title":"Ann Hematol"},{"key":"10.1086\/514844_bib28","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1086\/514844_bib29","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0022-3476(77)80441-1","article-title":"Osteopetrosis in children: a report of 26 cases","volume":"91","author":"Loria-Cort\u00e9s","year":"1977","journal-title":"J Pediatr"},{"key":"10.1086\/514844_bib30","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/aja.1001380204","article-title":"Pathogenesis of osteopetrosis in the ia rat: reduced bone resorption due to reduced osteoclast function","volume":"138","author":"Marks","year":"1973","journal-title":"Am J Anat"},{"key":"10.1086\/514844_bib31","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/aja.1001490212","article-title":"Osteopetrosis of the tl rat: presence of osteo-clasts but failure to respond to parathyroid extract or to be cured by infusion of spleen or bone marrow cells from normal littermates","volume":"149","author":"Marks","year":"1977","journal-title":"Am J Anat"},{"key":"10.1086\/514844_bib32","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.1320340110","article-title":"Osteoclast biology: lessons from mammalian mutations","volume":"34","author":"Marks","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1086\/514844_bib33","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1093\/oxfordjournals.jhered.a108657","article-title":"Osteopetrosis, a new recessive skeletal mutation on chromosome 12 of the mouse","volume":"67","author":"Marks","year":"1976","journal-title":"J Hered"},{"key":"10.1086\/514844_bib34","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/oxfordjournals.jhered.a110059","article-title":"Osteosclerosis: a recessive skeletal mutation on chromosome 19 in the mouse","volume":"76","author":"Marks","year":"1985","journal-title":"J Hered"},{"key":"10.1086\/514844_bib35","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1182\/blood.V74.5.1768.1768","article-title":"Localization of the SRC oncogene to chromosome band 20q112 and loss of this gene with deletion 20q in two leukemia patients","volume":"74","author":"Morris","year":"1989","journal-title":"Blood"},{"key":"10.1086\/514844_bib36","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/0888-7543(89)90132-8","article-title":"Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1","volume":"5","author":"Moseley","year":"1989","journal-title":"Genomics"},{"key":"10.1086\/514844_bib37","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng1295-402","article-title":"The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance","volume":"11","author":"O'Connell","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/514844_bib38","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1084\/jem.88.6.579","article-title":"Hereditary osteopetrosis of the rabbit. 1. General features and course of the disease","volume":"88","author":"Pearce","year":"1948","journal-title":"J Exp Med"},{"key":"10.1086\/514844_bib39","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1740-8261.1970.tb00392.x","article-title":"Osteopetrosis in the dog: a report of three cases","volume":"11","author":"Riser","year":"1970","journal-title":"J Am Vet Radiol Soc"},{"key":"10.1086\/514844_bib40","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/00003086-199309000-00005","article-title":"Osteopetrosis: current clinical considerations","volume":"294","author":"Shapiro","year":"1993","journal-title":"Clin Orthop Relat Res"},{"key":"10.1086\/514844_bib41","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1073\/pnas.80.9.2752","article-title":"Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification","volume":"80","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/514844_bib42","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1056\/NEJM198507183130302","article-title":"Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification","volume":"313","author":"Sly","year":"1985","journal-title":"N Engl J Med"},{"key":"10.1086\/514844_bib43","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/0092-8674(91)90499-O","article-title":"Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice","volume":"64","author":"Soriano","year":"1991","journal-title":"Cell"},{"key":"10.1086\/514844_bib44","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/ng1194-251","article-title":"Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene","volume":"8","author":"Tassabehji","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/514844_bib45","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1177\/030098586600300307","article-title":"Failure of bone resorption in a calf","volume":"3","author":"Thomson","year":"1966","journal-title":"Pathol Vet"},{"key":"10.1086\/514844_bib46","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/hmg\/3.4.553","article-title":"Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3","volume":"3","author":"Tichibana","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514844_bib47","first-page":"S175","article-title":"Novel osteopetrosis mutation caused by the knock out of the hematopoietic transcription factor PU.1 in transgenic mice","volume":"10","author":"Tondravi","year":"1995","journal-title":"J Bone Miner Res Suppl"},{"key":"10.1086\/514844_bib48","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/360741a0","article-title":"Bone and haematopoietic defects in mice lacking c-fos","volume":"360","author":"Wang","year":"1992","journal-title":"Nature"},{"key":"10.1086\/514844_bib49","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/0002-9343(80)90501-X","article-title":"Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters","volume":"69","author":"Whyte","year":"1980","journal-title":"Am J Med"},{"key":"10.1086\/514844_bib50","doi-asserted-by":"crossref","first-page":"6967","DOI":"10.1093\/nar\/19.24.6967-a","article-title":"Dinucleotide repeat polymorphism in the human SRC gene on chromosome 20","volume":"19","author":"Xiang","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/514844_bib51","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/345442a0","article-title":"The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulation factor gene","volume":"345","author":"Yoshida","year":"1990","journal-title":"Nature"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707640622?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707640622?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T03:51:03Z","timestamp":1684122663000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707640622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":51,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,8]]}},"alternative-id":["S0002929707640622"],"URL":"https:\/\/doi.org\/10.1086\/514844","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}