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Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib

20 Nov 2002

Abstract excerpt

Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), a 10 transmembrane domain endoplasmic reticulum protein. To date, 69 G6PT mutations, including 28 missenses and 2 codon deletions, have been identified in GSD-Ib patients. We previously characterized 15 of the missense and one codon deletion mutations using a pSVL-based expression assay. A lack of...

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PMID: 12444104
DOI: 10.1093/hmg/11.25.3199

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