PMID: 9949435

Kim ED, Bischoff FZ, Lipshultz LI, Lamb DJ
Genetic concerns for the subfertile male in the era of ICSI.
Prenat Diagn. 1998 Dec;18(13):1349-65., [PubMed]
Sentences
No. Mutations Sentence Comment
93 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9949435:93:122
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9949435:93:129
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9949435:93:136
status: NEW
view ABCC7 p.Gly542* details
Because these previous series had relied only on delta F508 mutations, Scobie et al. (1996) demonstrated the detection of G551D, R553X, G542X, 621+1G>T and delta F508 CFTR gene mutations using a rapid and specific differential amplification system. Login to comment