@article{7b714bb144b54ae6ba4fef81c9b8ecdc,
title = "Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p",
abstract = "Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.",
author = "Francomano, {Clalr A.} and {De Luna}, {Rosa I.Ortiz} and Hefferon, {Timothy W.} and Bellus, {Gary A.} and Turner, {Caria E.} and Eugene Taylor and Meyers, {Deborah A.} and Blanton, {Susan Halloran} and Murray, {Jeffrey C.} and Lain Mclntosh and Hecht, {Jacqueline T.}",
note = "Funding Information: The authors wish to thank Drs. D.H.Cohn, F.S.Collins, H.C.Dietz, W.A.Horton, and D.A.Tagle for critical review of this manuscript and helpful discussion, and Drs. J.M.Graham, Jr., R.E.Pyeritz, and D.H.Cohn for contributing families for analysis . This work was supported by N.I.H. grants RO1AR41135 and PO1HG00373 and the Simon Family (C.A.F.). RIOL is supported by the Patrons of the Hospital Infantil de Mexico, Federico Gomez. G.A.B. and C.E.T. are supported by N.I.H. training grants. Patients were seen in the General Clinical Research Centers of the Johns Hopkins University School of Medicine, including the CXnpatiem Clinical Research Center (MOl RR00722) and the Pediatric Clinical Research Center (MO1RR00052).",
year = "1994",
month = may,
doi = "10.1093/hmg/3.5.787",
language = "English (US)",
volume = "3",
pages = "787--792",
journal = "Human molecular genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "5",
}