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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|Titolo:||Structure and mutation analysis of the glycogen storage disease type 1b gene.|
|Citazione:||Marcolongo, P., Barone, V., G., P., B., P., S., G., G., B., et al. (1998). Structure and mutation analysis of the glycogen storage disease type 1b gene. FEBS LETTERS, 436, 247-250.|
|Appare nelle tipologie:||1.1 Articolo in rivista|