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FEBS Lett. 1998 Oct 2;436(2):247-50.

Structure and mutation analysis of the glycogen storage disease type 1b gene.

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Institute of General Pathology, University of Siena, Italy.

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  • FEBS Lett 1999 Feb 26;445(2-3):451.


Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucose-6-phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible for G6P transport, and its mapping to human chromosome 11q23.3. The gene is composed of nine exons spanning a genomic region of approximately 4 kb. Primers based on the genomic sequence were used in single strand conformation polymorphism (SSCP) analysis and mutations were found in six out of seven GSD 1b patients analysed.

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