𝔖 Bobbio Scriptorium
✦   LIBER   ✦

S3.2. Experience with DGGE based mutation screening of the CFTR gene in CF and CBAVD patients

✍ Scribed by H. Scheffer; D. de Jong; G.J.J. Mol; Y. Wu; R.M.W. Hofstra; C.H.C.M. Buys


Book ID
117454805
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
12 KB
Volume
54
Category
Article
ISSN
0300-2977

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel missense mutation in exon 16 of
✍ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 2 views

## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null

DGGE-based whole-gene mutation scanning
✍ Robert M.W. Hofstra; Inge M. Mulder; Rolf Vossen; Pia A. M. de Koning-Gans; Mari πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 224 KB

## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining

Four new mutations of the CFTR gene (541
✍ Laura Cremonesi; Maurizio Ferrari; Elena Belloni; Carmelina Magnani; Manuela Sei πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 521 KB

## Communicated by LapChee Tsui The deltaF508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. The numerous additional mutations detected so far are all relatively rare, and about 30% of CF chromosomes carries unknown mutations in our patients. In ord

Mutation screening of the ARX gene in pa
✍ Pauline Chaste; Gudrun Nygren; Henrik AnckarsΓ€ter; Maria RΓ₯stam; Mary Coleman; M πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 57 KB πŸ‘ 2 views