ABCMdb

PMID: 10819640

Kilinc MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoc F, Demirkol M, Huner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
J Med Genet. 2000 Apr;37(4):307-9., [PubMed]

Sentences

No. Mutations Sentence Comment

446 ABCC7 p.Gly1244Glu ABCC7 p.Gly542* The clinical data presented for three patients homozygous for the mutation and eight compound heterozygous patients who carry a severe mutation ( F508, G542X, and G1244E) on the other CFTR chromosome indicate that the mutation causes a severe CF phenotype. Login to comment 468 ABCC7 p.Ile148Thr ABCC7 p.Tyr1092* ABCC7 p.Leu1077Pro Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G. Hum Mutat 1994;3:330-2. 3 Cystic Fibrosis Genetic Analysis Consortium. Login to comment