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.
Structure and mutation analysis of the glycogen storage disease type 1b gene / P. Marcolongo; V. Barone; G. Priori; B. Pirola; S. Giglio; G. Biasucci; E. Zammarchi; G. Parenti; A. Burchell; A. Benedetti; V. Sorrentino. - In: FEBS LETTERS. - ISSN 0014-5793. - STAMPA. - 436:(1998), pp. 247-250.
Structure and mutation analysis of the glycogen storage disease type 1b gene.
GIGLIO, SABRINA RITA;
1998
Abstract
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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