ABCMdb

PMID: 8064813

Chillon M, Casals T, Gimenez J, Nunes V, Estivill X
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
J Med Genet. 1994 May;31(5):369-70., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCC7 p.Glu92Lys 3 Nunes V, Chill6n M, Dork T, Tummler B, Casals T, Estivill X. A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Login to comment 57 ABCC7 p.Glu92Lys A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Login to comment 58 ABCC7 p.Ala120Thr ABCC7 p.Gln30* 4 Chill6n M, Casals T, Gimenez J, Nunes V, Estivill X. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-lG-+C and 3667del4). Login to comment 60 ABCC7 p.Ala120Thr ABCC7 p.Gln30* Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-lG-+C and 3667del4). Login to comment