𝔖 Bobbio Scriptorium
✦   LIBER   ✦

344 A cluster of the cystic fibrosis transmembrane regulator (CFTR) mutation S549R in the Sultanate of Oman

✍ Scribed by M. Al Salmani; U. Fass; S. Bendahhou; H. Kallesh; G. Shivalingam; C. Norrish; F. Clark; S. Ismail; T. Heming; S. Al Khusaiby

Book ID
117799853
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
68 KB
Volume
11
Category
Article
ISSN
1569-1993

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A new frameshift mutation 460delG in exo
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
✍ Klaus Wagner; Petra Schneditz; Walter Rosenkranz πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 112 KB πŸ‘ 2 views

The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f

Characterization of an intron 12 splice
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
✍ Theresa V. Strong; Lisa S. Smit; Samya Nasr; Deborah L. Wood; Jeffrey L. Cole; M πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 659 KB

Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to th