PMID: 7540706

Jarvi K, Zielenski J, Wilschanski M, Durie P, Buckspan M, Tullis E, Markiewicz D, Tsui LC
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia.
Lancet. 1995 Jun 17;345(8964):1578., [PubMed]
Sentences
No. Mutations Sentence Comment
18 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7540706:18:39
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 7540706:18:69
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 7540706:18:61
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7540706:18:46
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 7540706:18:196
status: NEW
view ABCC7 p.Arg75Gln details
 We screened for 6 CF mutations (AF508, G551D, G542X, W1283X, N1303K, R117H), representing the most common mutations detected previously in men with CBAVD, and determined the CFTR gene variants of R75Q and T tract length of intron 8. Login to comment