PMID: 7509232

Meitinger T, Golla A, Dorner C, Deufel A, Aulehla-Scholz C, Bohm I, Reinhardt D, Deufel T
In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.
Hum Mol Genet. 1993 Dec;2(12):2173-4., [PubMed]
Sentences
No. Mutations Sentence Comment
4 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7509232:4:123
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7509232:4:130
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509232:4:116
status: NEW
view ABCC7 p.Gly542* details
 Analysing CF chromosomes in a sample of 227 CF patients from South Germany by screening for known mutations (AF5O8, G542X, G551D, R553X) and further investigation of samples with unresolved chromosomes by SSCP and direct sequencing, we identified a novel in-frame deletion occurring within a short trinucleotide repeat in exon 7 of the CFTR gene. Login to comment