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A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

✍ Scribed by Sangiuolo, Federica; Novelli, Giuseppe; Murru, Stefania; Dallapiccola, Bruno


Book ID
122770238
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
211 KB
Volume
9
Category
Article
ISSN
0888-7543

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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