PMID: 18567645

Radpour R, Gourabi H, Dizaj AV, Holzgreve W, Zhong XY
Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility.
J Androl. 2008 Sep-Oct;29(5):506-13. Epub 2008 Jun 20., [PubMed]
Sentences
No. Mutations Sentence Comment
36 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18567645:36:28
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 18567645:36:42
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 18567645:36:35
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18567645:36:54
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18567645:36:21
status: NEW
view ABCC7 p.Gly542* details
Examples include the G542X, G551D, R553X, W1282X, and N1303K mutations. Login to comment