Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus. [electronic resource]
Producer: 20190820Description: 44 p. digitalISSN:- 1471-2350
- Adolescent
- Case-Control Studies
- Child
- Child, Preschool
- Cystic Fibrosis -- ethnology
- Cystic Fibrosis Transmembrane Conductance Regulator -- genetics
- Early Diagnosis
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Male
- Point Mutation
- Russia -- ethnology
- Sequence Deletion
- Severity of Illness Index
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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