CLINICAL IMPLICATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS

Author:

Mickle John E.,Cutting Garry R.

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pulmonary and Respiratory Medicine

Reference139 articles.

1. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population;Abeliovich;Am J Hum Genet,1992

2. Nucleotide triphosphates are required to open the CFTR chloride channel;Anderson;Cell,1991

3. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity;Anderson;Science,1991

4. Generation of cAMP-activated chloride currents by expression of CFTR;Anderson;Science,1991

5. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10 kb C→T mutation;Augarten;Lancet,1993

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