Characterization of an Intron 12 Splice Donor Conductance guPator ( CF tation in the Cystic Fibrosis Transmembrane
نویسندگان
چکیده
Theresa V. Strong,* Lisa S . Smit, Samya Nasr, Deborah L. Wood, Jeffrey L. Cole, Michael C. Iannuzzi, Robert C. Stern, and Francis S. Collins Departments of Human Genetics (T.V.S., L.S.S., D.L. W., F.S.C.) , Pediatrics (S.N.), lnternal Medicine (F.S.C.), and The Howard Hughes Medical Institute (J.L.C., F.S.C.), University of Michigan, Ann Arbor, Michigan 48109-0650; The Henry Ford Hospital, Detroit, Michigan (M.C.1,); and Rainbow Babies and Childrens Hospital, Cleveland, Ohio (R.C.S.)
منابع مشابه
Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system . It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200TA(7_56) and D7S523 located in intron 17b and 1 cM proximal to t...
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