✦ LIBER ✦

Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia

✍ Scribed by S.-C. Chiang; Y.-M. Lee; M.-H. Chang; T.-R. Wang; T.-M. Ko; W.-L. Hwu

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 49 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380070026

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Heterogeneous mutations in the glucose-6

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia

✍ Takahashi, Kazutoshi; Akanuma, Jun; Matsubara, Yoichi; Fujii, Kunihiro; Kure, Sh 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 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

Mutations in the glucose-6-phosphatase-α

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

✍ Janice Y. Chou; Brian C. Mansfield 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

Communicated by William S

Identification of a novel missense mutat

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)

✍ Mei-Chen Wu; Fuu-Jen Tsai; Cheng-Chun Le; Shuan-Pei Lin; Jer-Yuarn Wu 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

Identification of three novel mutations

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

✍ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Ber 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was

Homozygous mutation 341delG/101X of the

Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient

✍ Tsang-Ming Ko; Zhi-Cheng Liang; Yu-Wan Lin; Wuh-Liang Hwu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

Identification of mutations in the gluco

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5

✍ Libor Kozák; Hana Francová; Eva Hrabincová; Sylvie Štastná; Karolína Pešková; Mi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views