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Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

โœ Scribed by Bonduelle, M.; Lissens, W.; Liebaers, I.; Malfroot, A.; Dab, I.


Book ID
123042397
Publisher
The Lancet
Year
1991
Tongue
English
Weight
154 KB
Volume
338
Category
Article
ISSN
0140-6736

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Severe liver impairment in a cystic fibr
โœ Castaldo, Giuseppe; Rippa, Emilia; Salvatore, Donatello; Sibillo, Raffaella; Rai ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 143 KB ๐Ÿ‘ 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