ABCMdb

PMID: 9363704

Pauer HU, Hinney B, Michelmann HW, Krasemann EW, Zoll B, Engel W
Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection.
Hum Reprod. 1997 Sep;12(9):1909-12., [PubMed]

Sentences

No. Mutations Sentence Comment

24 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Patients whose history or physical examination showed a possible diagnosis of CBAVD were typed for 19 additional CFTR mutations (e.g. R117H, Introduction R347P, 1717-1, G542X, G551D, R553X, W1282X and N1303K), including an intronic polymorphism (5T allele) which leads to reduced The development of intracytoplasmic sperm injection (ICSI) for splicing efficiency of the CFTR mRNA (Chillo &#b4;n et al., 1995). Login to comment 25 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Patients whose history or physical examination showed a possible diagnosis of CBAVD were typed for 19 additional CFTR mutations (e.g. R117H, Introduction R347P, 1717-1, G542X, G551D, R553X, W1282X and N1303K), including an intronic polymorphism (5T allele) which leads to reducedThe development of intracytoplasmic sperm injection (ICSI) for splicing efficiency of the CFTR mRNA (Chillo´n et al., 1995). Login to comment 76 ABCC7 p.Arg117His So far only cases of 4pAll six were tested; three were found to be compound hetero-and 9p trisomies have been reported in children of parentszygotes, one with genotype Delta F508/R117H, one with with centric fission of chromosomes no. 4 and no. 9. Login to comment 77 ABCC7 p.Arg117His Janke1717-1 ⇒A/R117H and one with Delta F508/5T. Login to comment 80 ABCC7 p.Arg117His ABCC7 p.Arg117His So far only cases of 4p All six were tested; three were found to be compound hetero-and 9p trisomies have been reported in children of parents zygotes, one with genotype Delta F508/R117H, one with with centric fission of chromosomes no. 4 and no. 9. Janke 1717-1 d2;A/R117H and one with Delta F508/5T. Login to comment