✦ LIBER ✦

Mutations of the cystic fibrosis gene locus within the population of the Northwest of England

✍ Scribed by M. Super; M. J. Schwarz

Publisher: Springer
Year: 1992
Tongue: English
Weight: 356 KB
Volume: 151
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf01958953

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Population variation of common cystic fi

Population variation of common cystic fibrosis mutations

✍ The Cystic Fibrosis Genetic Analysis Consortium 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 707 KB

regarding the manuscript are gratefully acknowledged. The operating cost of the Consortium is supported by a grant from the Cystic Fibrosis Foundation of the USA.

Prevalence of cystic fibrosis mutations

Prevalence of cystic fibrosis mutations in the East German population

✍ Charles Coutelle; Roland Brückner; Klaus Grade; Frauke Behrens; Jürgen Gedschold 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected,

The geographic distribution of cystic fi

The geographic distribution of cystic fibrosis mutations gives clues about population origins

✍ K. P. Dawson; P. M. Frossard 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 65 KB

Heterogeneity in the severity of cystic

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

✍ Michael Dean; George Santis 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 589 KB

Cystic fibrosis is a common, fatal disorder caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a chloride channel that regulates secretion in many exocrine tissues. The presentation of cystic fibrosis is highly variable as measured by the age

Mutation analysis in the diagnosis of cy

Mutation analysis in the diagnosis of cystic fibrosis

✍ T. Deufel; H. Rabe; T. Wieser; T. Meitinger; J. Rosenecker; R. Bertele-Harms; K. 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 304 KB

Incidence and expression of the N1303K m

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

✍ L. Osborne; G. Santis; M. Schwarz; K. Klinger; T. Dörk; I. McIntosh; M. Schwartz 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 590 KB

The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestation