A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene
โ Scribed by Anna Diana; Riccardina Tesse; Angela M. Polizzi; Teresa Santostasi; Antonio Manca; Giuseppina Leonetti; Manuela Seia; Luigi Porcaro; Luciano Cavallo
- Book ID
- 116508721
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 409 KB
- Volume
- 497
- Category
- Article
- ISSN
- 0378-1119
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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