✦ LIBER ✦

A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

✍ Scribed by Minoru Okubo; Yoshiko Aoyama; Toshio Murase

Book ID: 115578727
Publisher: Elsevier Science
Year: 1996
Tongue: English
Weight: 246 KB
Volume: 224
Category: Article
ISSN: 0006-291X
DOI: 10.1006/bbrc.1996.1055

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Novel Donor Splice Site Mutation in th

A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III: Volume224,Number 2 (1996), pages 493–499

✍ Minoru Okubo; Yoshiko Aoyama; Toshio Murase 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 25 KB

Novel donor splice site mutations of AGL

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

✍ G. M. Hadjigeorgiou; G. P. Comi; A. Bordoni; J. Shen; Y.-T. Chen; S. Salani; A. 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 35 KB

Glycogen storage disease type 1b: Mild p

Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation

✍ M. Chopra; R. Jackson; M. Durkie; N.J. Beauchamp; E.P. Kirk 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 113 KB

Identification of a 5′ splice junction m

Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa

✍ S. Uotani; H. Yamasaki; H. Takino; E. Kawasaki; H. Matsuo; S. Yamasaki; Y. Jinno 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 35 KB

A novel point mutation in an acceptor sp

A novel point mutation in an acceptor splice site of intron 32 (IVS32 A–12→G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

✍ M. Okubo; Asako Horinishi; Norimasa Nakamura; Yoshiko Aoyama; Masaji Hashimoto; 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 59 KB

Glycogen storage disease type IIIa: firs

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

✍ Minoru Okubo; Fumio Kanda; Asako Horinishi; Keiichi Takahashi; Shiho Okuda; Kazu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 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