PMID: 25697321

Hernandez-Amaris MF, Gomez-Vasquez AM, Pachajua H H
[Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation].
Rev Chil Pediatr. 2014 Jul;85(4):470-5. doi: 10.4067/S0370-41062014000400010., [PubMed]
Sentences
No. Mutations Sentence Comment
76 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 25697321:76:108
status: NEW
view ABCC7 p.Asp1152His details
 Referencias 1.- Diana A, Tesse R, Polizzi AM, et al: A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. Login to comment