PMID: 10425036

Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD
Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Hum Mutat. 1999;14(2):133-44., [PubMed]
Sentences
No. Mutations Sentence Comment
128 ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 10425036:128:103
status: NEW
view ABCC7 p.Trp846* details
 The 3272-26A→G mutation was first described in compound heterozygosity with the severe mutation W846X in a patient with a mild phenotype [Fanen et al., 1992]. Login to comment