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Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

✍ Scribed by Teresa Casals; Virginia Nunes; Ana Palacio; Javier Giménez; Antonia Gaona; Núria Ibáñez; Núria Morral; Xavier Estivill

Book ID
104674053
Publisher
Springer
Year
1993
Tongue
English
Weight
482 KB
Volume
91
Category
Article
ISSN
0340-6717

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Severe liver impairment in a cystic fibr
Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation
✍ Castaldo, Giuseppe; Rippa, Emilia; Salvatore, Donatello; Sibillo, Raffaella; Rai 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 1 views

The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary ex