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Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

✍ Scribed by Miguel Chillón; Ana Palacio; Virginia Nunes; Teresa Casals; Javier Giménez; Xavier Estivill


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
156 KB
Volume
1
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