PMID: 18616886

Tamburino L, Guglielmino A, Venti E, Chamayou S
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
Reprod Biomed Online. 2008 Jul;17(1):27-35., [PubMed]
Sentences
No. Mutations Sentence Comment
35 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18616886:35:24
status: NEW
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 the IVS8-5T variant and R117H (Claustres. Login to comment 136 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18616886:136:353
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18616886:136:422
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18616886:136:230
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 18616886:136:447
status: NEW
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 Cystic fibrosis transmembrane regulator (CFTR) and IV.S8-Poly T genotypes according to semen parameters. Semen analysis Group 1 Total Group !l Total Group m TutuI Group IV Total CFTR genotype AF508/- AF508/- 2789+5G_^A/- N13O3K/- G542X/- - / - - / - - / - AF508/- AF508/R1I7H» NI3Ü3K/- 3849+ 10kbC_T/3849+1 O k b C ^ P - / - -/_ - / - AF5O8/- N1303K/- 3849+!0kbC-+T/- - / - - / - - / - - / - - / - - / - AF508/- N1303K/- 3849+10kbC->T/- I148T/- WI282X/- - / - - / - _/_ - / - - / - -/_ genotype 5T/9T 7T/9T 7T/7T 5T/9T 5T/9T 5T/7T 5T/9T 7T/7T 7T/9T 7T/9T 7T/9T 7T/7T 5T/7T 7T/7T 7T/9T 5T/9T 7r/7T 7T/9T 5T/5T 5T/7T 5T/9T 7T/7T 7T/9T 9T/9T 7T/9T 7T/9T 7T/7T 7T/9T 7T/7T 5T/5T 5T/7r 5T/9T 7T/7T 7T/9T 9T/9T No. Login to comment