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Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride

โœ Scribed by C. Castellani; M.G. Benetazzo; A. Bonizzato; P.F. Pignatti; G. Mastella


Book ID
117852685
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
44 KB
Volume
64
Category
Article
ISSN
0002-9297

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Sweat electrolyte and cystic fibrosis mu
โœ Rabbi-Bortolini, Eliete; Bernardino, Andr๏ฟฝa L.F.; Lopes, Adoris L.; Ferri, Adria ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 24 KB ๐Ÿ‘ 2 views

A total of 540 individuals with clinical signs suggestive of cystic fibrosis (CF) was studied. The sweat chloride was measured and the DF508, G542X, R553X, and W1282X mutations of the CF gene were screened by polymerase chain reaction (PCR). With this approach the diagnosis of CF was confirmed in 12