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The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).
Rowe PS, Goulding JN, Francis F, Oudet C, Econs MJ, Hanauer A, Lehrach H, Read AP, Mountford RC, Summerfield T, Weissenbach J, Fraser W, Drezner MK, Davies KE, O'Riordan JL. Rowe PS, et al. Among authors: weissenbach j. Hum Genet. 1996 Mar;97(3):345-52. doi: 10.1007/BF02185769. Hum Genet. 1996. PMID: 8786079
No evidence of genetic heterogeneity in dominant optic atrophy.
Bonneau D, Souied E, Gerber S, Rozet JM, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J. Bonneau D, et al. Among authors: weissenbach j. J Med Genet. 1995 Dec;32(12):951-3. doi: 10.1136/jmg.32.12.951. J Med Genet. 1995. PMID: 8825922 Free PMC article.
505 results