𝔖 Bobbio Scriptorium
✦   LIBER   ✦

16. Analysis of alterations in CFTR transcript processing triggered by the 3905insT mutations

✍ Scribed by L. Bennett; Ph. Oswald; R. Kraemer; S. Liechti-Gallati


Book ID
117454867
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
14 KB
Volume
54
Category
Article
ISSN
0300-2977

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Transcript identification in the optomot
✍ Poeck, Burkhard ;Balles, JΓΌrgen ;Pflugfelder, Gert O. πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 833 KB

The optomotor-blind gene of Drosophila melanogaster is large and genetically complex. Five partly independent complementation groups are uncovered by several viable and lethal mutations at the locus. At least 15 RNA signals have been detected by Northern blot analysis. One of them, T3, derived from

Three homozygous PTC mutations in the co
✍ Rita Gardella; Nicoletta Zoppi; Sergio Ferraboli; Dario Marini; Gianluca Tadini; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 557 KB

## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).

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