𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers

✍ Scribed by Minoru Okubo; Yoshiko Aoyama; Masahiko Kishimoto; Yoshimasa Shishiba; Toshio Murase


Book ID
110887605
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
546 KB
Volume
51
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Heterogeneous mutations in the glucose-6
✍ Takahashi, Kazutoshi; Akanuma, Jun; Matsubara, Yoichi; Fujii, Kunihiro; Kure, Sh πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 2 views

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G

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

Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog