PMID: 19724303

Sanz J, von Kanel T, Schneider M, Steiner B, Schaller A, Gallati S
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.
Eur J Hum Genet. 2010 Feb;18(2):212-7. Epub 2009 Sep 2., [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCC7 p.Gln39*
X
ABCC7 p.Gln39* 19724303:26:106
status: NEW
view ABCC7 p.Gln39* details
ABCC7 p.Pro5Leu
X
ABCC7 p.Pro5Leu 19724303:26:90
status: NEW
view ABCC7 p.Pro5Leu details
 Two patients carried the 3905insT (c.3773_3774insT) mutation on one allele and the P5L (p.Pro5Leu) or the Q39X (p.Gln39X) mutation, respectively, on the other allele. Login to comment 145 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 19724303:145:156
status: NEW
view ABCC7 p.Arg553* details
 Hum Genet 1997; 100: 220-223. 9 Liechti-Gallati S, Bonsall I, Malik N et al: Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations. Login to comment