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Cystic fibrosis transmembrane regulator mutations and pancreatic disease: closing the gap between genotype and phenotype

✍ Scribed by Veronique Morinville; Adam Slivka


Book ID
119242092
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
77 KB
Volume
63
Category
Article
ISSN
1097-6779

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## For the Mutation Pathogenicity Special Issue We have been investigating the functional consequences of rare disease-associated amino acid substitutions in the cystic fibrosis transmembrane conductance regulator (CFTR). Mutations of the arginine residue at codon 1070 have been associated with di