PMID: 7514288

Santis G, Geddes D
Recent advances in cystic fibrosis.
Postgrad Med J. 1994 Apr;70(822):247-51., [PubMed]
Sentences
No. Mutations Sentence Comment
17 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7514288:17:17
status: NEW
view ABCC7 p.Trp1282* details
 For example, the W1282X mutation accounts for 48% of CF chromosomes in the Ashkenazi Jewish population, and the 621 + lG-*T mutation for 23% of French Canadian CF chromosomes.78 Knowledge of the ethnicdistribution of CFTR mutations is therefore essential for prenatal diagnosis and heterozygote screening. Login to comment