ABCMdb

PMID: 9239681

De Braekeleer M, Ferec C
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
Mol Hum Reprod. 1996 Sep;2(9):669-77., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCC7 p.Arg117His ABCC7 p.Arg117His Indeed, studies on genotype-phenotype have now shown that some mutations and/or genotypes are associated with mild phenotypes (Dean et al., 1990; Strong et al, 1991; Varon Table I. Distribution of patients with congenital bilateral absence of the vas deferens (CBAVD) according to their genotype References No. of No. of No. of compound No. of No. of Remarks patients homozygotes (HH) heterozygotes (hh) heterozygotes (h) normal (N) 1 2/3 4 5/6 7/8/9 10/11 12/13/14/29 15/16 17/18/30 19/24 20/24 21 22 23 31 32 33 TOTAL 25 26 27 28 25* 10 18 59 8** 44 33*** 36" 70 67" 28° 1 35 26d 35 26 45 572 1 4 1 1 0 0 0 0 0 0 0 3 1 1 0 0 0 0 0 0 0 5 1 3 3 1 4 3 8 6 2 8 15 3 0 5 3 1 6 15 86 1 3 1 16 2 9 27 3 23 15 13 40 28 19 5 15 7 18 14 25 279 6 5 8 28 2 13 12 18 21 23 6 2 15 16 16 6 5 202 Most common mutations in the studied population Most common mutations in the studied population Most common mutations in the studied population Most common mutations in the studied population DNA sequencing of the coding regions and the splice junctions DNA sequencing of the coding regions and the splice junctions DNA sequencing of the coding regions and the splice junctions DNA sequencing of the coding regions and the splice junctions Most common mutations in the studied population DNA sequencing of the coding regions and the splice junctions DNA sequencing of the coding regions and the splice junctions Most common mutations in the studied population Only tested for AF508 and R117H DNA sequencing of the coding regions and the splice junctions Most common mutations in the studied population Most common mutations in the studied population DNA sequencing of the coding regions and the splice junctions Case report Case report Case report Case report •Including one congenital unilateral absence of the vas deferens (CUAVD). Login to comment