𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity

✍ Scribed by Nelson L.S Tang; Joannie Hui; Elisabeth Young; Viki Worthington; Ka-Fai To; Kam-Lau Cheung; Chi-Kong Li; Tai-Fai Fok


Book ID
117735516
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
199 KB
Volume
79
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutation (G188R) in the G6Pase gen
✍ Pascale Trioche; Philippe Labrune; Michel OdiΓ¨vre; Michelle Hedchouel; Jean-Fran πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 286 KB πŸ‘ 2 views

Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer (Easton et al., 1993; Ford et al., 1994). We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian canc

Glycogen storage disease type IIIa: firs
✍ Minoru Okubo; Fumio Kanda; Asako Horinishi; Keiichi Takahashi; Shiho Okuda; Kazu πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 63 KB πŸ‘ 1 views

Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1