PMID: 16481896

Kobler D, Modi H, Goldman B
Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene.
Genet Med. 2006 Feb;8(2):125-8., [PubMed]
Sentences
No. Mutations Sentence Comment
10 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16481896:10:55
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16481896:10:71
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16481896:10:107
status: NEW
view ABCC7 p.Arg117His details
 It modulates in cis the phenotypic consequences of the R117H mutation; R117H/5T is associated with CF, and R117H/7T is associated with congenital bilateral absence of the vas deferens.10,11 To meet the accuracy and throughput demands now required by CF testing laboratories, diagnostic companies have developed various products, including ELUCIGENE CF- Poly-T (Tepnel Diagnostics, Abingdon, Oxon, UK), INNO-LiPA CFTR (Innogenetics, Gent, Belgium), and the Tag-It™ Cystic Fibrosis Kit (Tm Bioscience, Toronto, Ontario, Canada). Login to comment