𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Functional effects of mutations identified in patients with Multiminicore disease

✍ Scribed by Francesco Zorzato; Heinz Jungbluth; Haiyan Zhou; Francesco Muntoni; Susan Treves


Book ID
111741871
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
560 KB
Volume
59
Category
Article
ISSN
1521-6543

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Functional characterization and targeted
✍ Kotoka Nakamura; Liutao Du; Rashmi Tunuguntla; Francesca Fike; Simona Cavalieri; πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 672 KB

A recent challenge for investigators studying the progressive neurological disease ataxia-telangiectasia (A-T) is to identify mutations whose effects might be alleviated by mutation-targeted therapies. We studied ATM mutations in eight families of Japanese A-T patients (JPAT) and were able to identi

Functional in vitro characterization of
✍ Andrea Dardis; Stefania Zampieri; Mirella Filocamo; Alberto Burlina; Bruno Bembi πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 127 KB πŸ‘ 1 views

Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase due to mutations in the SMPD1 gene. We functionally characterized three novel SMPD1 mutations and 11 already reported in the Italian population. Mutant alleles we