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A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

โœ Scribed by T. Bienvenu; P. Petitpretz; C. Beldjord; J. C. Kaplan


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
266 KB
Volume
3
Category
Article
ISSN
1059-7794

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The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f