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Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

✍ Scribed by Lucia Galli; Alfredo Orrico; Paola Marcolongo; Rosella Fulceri; Ann Burchell; Daniela Melis; Rossella Parini; Rosanna Gatti; Ching-Wan Lam; Angelo Benedetti; Vincenzo Sorrentino


Book ID
117111498
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
59 KB
Volume
459
Category
Article
ISSN
0014-5793

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Glycogen storage disease type Ib: Struct
✍ Hou, Dian-Chang; Kure, Shigeo; Suzuki, Yoichi; Hasegawa, Yukihiro; Hara, Yoji; I πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 70 KB πŸ‘ 2 views

Glycogen storage disease type Ib is caused by a mutation in the gene encoding microsomal glucose-6-phosphate (G6P) transporter. We determined the exon/intron organization of the G6P transporter gene. Four overlapping genomic fragments containing the entire coding region of the gene were amplified by