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Differences in disease severity of F508del homozygotes across European countries

✍ Scribed by A. Zolin; L. Viviani; H. Olesen; E. Kerem; A. Bossi


Book ID
118642862
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
48 KB
Volume
9
Category
Article
ISSN
1569-1993

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πŸ“œ SIMILAR VOLUMES


Cystic fibrosis patients with mutation 1
✍ V. Nunes; T. Casals; A. Gaona; G. AntiΓ±olo; J. Ferrer-Calvete; J. PΓ©rez-Frias; E πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 437 KB

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which