• PMID: 7516233
• Gene Name: CFTR
• Condition: CBAVD
• Association: A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
• Population size: 1
• Population details: 1 CBAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: CBAVD

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

Culard JF, Desgeorges M, Romey MC, Malzac P, Demaille J, Claustres M.

No abstract available