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

@article{Ihara1998GenomicSO,
  title={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},
  author={Kenji Ihara and Ryuichi Kuromaru and Toshiro Hara},
  journal={Human Genetics},
  year={1998},
  volume={103},
  pages={493-496}
}
Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6-phosphate (G6P) translocase. A gene mutated in GSD type Ib patients has recently been isolated. We have determined the entire sequence of the human G6P translocase gene by PCR-directed sequencing. The gene spans approximately 5 kb of genomic DNA and contains eight exons. Analysis of DNA from a Japanese patient with GSD type Ib revealed new compound heterozygous mutations; a T… CONTINUE READING

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