✦ LIBER ✦

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

✍ Scribed by G. M. Hadjigeorgiou; G. P. Comi; A. Bordoni; J. Shen; Y.-T. Chen; S. Salani; A. Toscano; F. Fortunato; S. Lucchiari; N. Bresolin; C. Rodolico; M. G. Piscaglia; L. Franceschina; A. Papadimitriou; G. Scarlato

Book ID: 110225986
Publisher: Springer
Year: 1999
Tongue: English
Weight: 35 KB
Volume: 22
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005572906807

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

Heterogeneous mutations in the glycogen-

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

✍ M. Okubo; A. Horinishi; M. Takeuchi; Y. Suzuki; N. Sakura; Y. Hasegawa; T. Igara 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 295 KB

Compound heterozygous patient with glyco

Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

✍ Okubo, Minoru ;Horinishi, Asako ;Suzuki, Yoichi ;Murase, Toshio ;Hayasaka, Kiyos 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 148 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

Novel mutations in two Japanese cases of

Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III

✍ T. Fukuda; H. Sugie; M. Ito 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 96 KB

Clinical and genetic variability of glyc

Clinical and genetic variability of glycogen storage disease type IIIa: Seven novelAGL gene mutations in the mediterranean area

✍ Lucchiari, S. ;Fogh, I. ;Prelle, A. ;Parini, R. ;Bresolin, N. ;Melis, D. ;Fiori, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB 👁 1 views