ABCMdb

PMID: 11265322

Cuppens H, Cassiman JJ
Solid phase fluorescent sequencing of the CFTR gene.
Methods Mol Biol. 2001;167:63-88., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Depending on the ethnic origin, five to ten mutations, such as 1717-1G A, G542X, G551D, R553X, W1282X, and N1303K, reach rather high frequencies (4). Login to comment 255 ABCC7 p.Glu60* (A) A "G" to "T" mutation at nucleotide position 310 of the CFTR gene in the E60X nonsense mutant. Login to comment 256 ABCC7 p.Trp401* (B) A "G" to "A" nucleotide change at position 1335 of the CFTR gene in the W401X mutant. Login to comment