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The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania

✍ Scribed by Lucian Frenţescu; Emma Brownsell; Joanna Hinks; Geraldine Malone; Helen Shaw; Livia Budişan; Michael Bulman; Martin Schwarz; Liviu Pop; Mirela Filip; Emil Tomescu; Simona Moşescu; Ioan Popa; Gheorghe Benga


Book ID
119288624
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
361 KB
Volume
7
Category
Article
ISSN
1569-1993

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The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a p