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
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib
β Scribed by K. Ihara; Ryuichi Kuromaru; Toshiro Hara
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 103 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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