Association of less common cystic fibrosis mutations with a mild phenotype.
نویسندگان
چکیده
منابع مشابه
Association of less common cystic fibrosis mutations with a mild phenotype.
A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also has a second rare mutation, delta I507. All three subjects exhibit a less seve...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.1.34