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GENOTYPE-PHENOTYPE RELATIONSHIPS IN CYSTIC FIBROSIS

โœ Scribed by Mickle, John E.; Cutting, Garry R.


Book ID
122380350
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
748 KB
Volume
84
Category
Article
ISSN
0025-7125

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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