PMID: 14965334

Vogt PH
Molecular genetics of human male infertility: from genes to new therapeutic perspectives.
Curr Pharm Des. 2004;10(5):471-500., [PubMed]
Sentences
No. Mutations Sentence Comment
284 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 14965334:284:99
status: NEW
view ABCC7 p.Arg117His details
 Compound heterozygotes of CBAVD patients with a 5T allele in one gene copy and a Arg117-to-His117 (R117H) mutation in exon 4 of the second gene copy have a severe CF phenotype, whereas the 7T allele would only result in CBAVD [117]. Login to comment