ABCMdb

PMID: 9101301

Clavel C, Pennaforte F, Pigeon F, Verlingue C, Birembaut P, Ferec C
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.
Hum Mutat. 1997;9(4):368-9., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* In this group, the a508 represents 66%, other common mutations, such as aI507, G542X, R553X, G551D), 1717-lGÃA, R1162X, W1282X, and N1303K, were screened by restriction enzyme assay and account for 11%. Login to comment 11 ABCC7 p.Glu664* RESULTS Molecular defects were found in E664X, 2113delA, 306delTAGA, and aM1140. Login to comment 12 ABCC7 p.Glu664* E664X A transversion GÃT at nucleotide position 2,122 was located in exon 13. Login to comment 21 ABCC7 p.Arg553* The affected 5-year-old child is a compound heterozygote R553X/ 306delTAGA. Login to comment 31 ABCC7 p.Glu664* Sequencing data of E664X, 306 del TAGA, and 2113 del A mutations. Login to comment