ABCMdb

PMID: 7692051

Bienvenu T, Beldjord C, Adjiman M, Kaplan JC
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
J Med Genet. 1993 Sep;30(9):797., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Arg117His Jf Med Genet 1993; 30: 797-800 LETTERS TO THE EDITOR Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H Since the identification of the cystic fibrosis gene (CFTR),' more than 265 mutations have been described (CF Genetic Analysis Consortium, 1992). Login to comment 5 ABCC7 p.Arg117His He is homozygous for the R117H CFTR mutation, which was detected by DGGE screening and characterised by direct sequencing of PCR amplified DNA from exon 4 using the Sequenase USB kit. Login to comment 78 ABCC7 p.Arg117His ABCC7 p.Arg117His From our 797 group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from doi: 10.1136/jmg.30.9.797 1993 30: 797J Med Genet T Bienvenu, C Beldjord, M Adjiman, et al. mild mutation R117H. Login to comment