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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Claustres, Mireille

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? [electronic resource] - BMC medical genetics Aug 2004 - 19 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

ISSN: 1471-2350

Standard No.: 10.1186/1471-2350-5-19 doi

Subjects--Topical Terms:
Amino Acid Substitution
Cystic Fibrosis--genetics
Cystic Fibrosis Transmembrane Conductance Regulator--genetics
DNA Mutational Analysis
Family Health
Female
Gene Frequency
Haplotypes
Humans
Male
Mutagenesis, Insertional
Mutation
Penetrance
Polymorphism, Genetic
Sequence Deletion

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