PMID: 7682803

Sferra TJ, Collins FS
The molecular biology of cystic fibrosis.
Annu Rev Med. 1993;44:133-44., [PubMed]
Sentences
No. Mutations Sentence Comment
75 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7682803:75:13
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7682803:75:27
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7682803:75:6
status: NEW
view ABCC7 p.Gly542* details
 AF508,G542X, G551D, R533X, W1282X, and Nl303K account for 84.5% ofCF chromosomes in the non-Askenazic, North AmericanCaucasian population (43). Login to comment 266 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7682803:266:36
status: NEW
view ABCC7 p.Trp1282* details
 Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment