Brachydactyly type C gene maps to human chromosome 12q24

被引:15
作者
Polymeropoulos, MH [1 ]
Ide, SE [1 ]
Magyari, T [1 ]
Francomano, CA [1 ]
机构
[1] NIH,NATL CTR HUMAN GENOME RES,MED GENET BRANCH,BETHESDA,MD 20892
关键词
D O I
10.1006/geno.1996.0590
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family. We have followed up and studied members of the large kindred segregating with the brachydactyly type C phenotype described by Virgil Haws in 1963, and using genetic linkage analysis, we localized the susceptibility gene to human chromosome 12q24. (C) 1996 Academic Press, Inc.
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收藏
页码:45 / 50
页数:6
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