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Structure of the gene mutated in glycogen storage disease type Ib

✍ Scribed by Isabelle Gerin; Maria Veiga-da-Cunha; Gaëtane Noël; Emile Van Schaftingen


Book ID
117523492
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
627 KB
Volume
227
Category
Article
ISSN
0378-1119

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Glycogen storage disease type Ib: Struct
✍ Hou, Dian-Chang; Kure, Shigeo; Suzuki, Yoichi; Hasegawa, Yukihiro; Hara, Yoji; I 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 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