✦ LIBER ✦

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese

✍ Scribed by Ching-Wan Lam; Allen Ting-Chun Lee; Yuen-Yu Lam; Tak-Wai Wong; Tony Wing-Lai Mak; Wai-Ching Fung; Kwok-Chiu Chan; Che-Shun Ho; Sui-Fan Tong

Book ID: 116987548
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 596 KB
Volume: 83
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2004.07.017

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of the AGL gene: hete

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type

✍ Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Tos 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 154 KB

Clinicopathological analysis of the homo

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

✍ Benedikt Schoser; Dieter Gläser; Josef Müller-Höcker 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 1 views

Molecular analysis of the AGL gene: Iden

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

✍ Goldstein, Jennifer L; Austin, Stephanie L; Boyette, Keri; Kanaly, Angela; Veera 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 508 KB

Structure and mutation analysis of the g

Structure and mutation analysis of the glycogen storage disease type 1b gene

✍ Paola Marcolongo; Virginia Barone; Giuseppina Priori; Barbara Pirola; Sabrina Gi 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 74 KB

Prenatal diagnosis of glycogen storage d

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis

✍ Jianjun Shen; Hui-Ming Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 1 views

Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur

A c.3216_3217delGA mutation in AGL gene

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

✍ A Mili; I Ben Charfeddine; A Amara; O MamaÏ; L Adala; T Ben Lazreg; J Bouguila; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 677 KB