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Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib

✍ Scribed by Shih-Yin Chen; Chi-Jiunn Pan; Soojung Lee; Wentao Peng; Janice Y. Chou


Book ID
116988408
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
186 KB
Volume
95
Category
Article
ISSN
1096-7192

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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