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Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

✍ Scribed by Salmo Raskin; Lilian Pereira-Ferrari; Francisco Caldeira Reis; Fernando Abreu; Paulo Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwig; Lairton Valentin; Nelson Augusto Rosario-Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip III; Ranajit Chakraborty


Book ID
119288559
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
163 KB
Volume
7
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