CIQUIBIC 05472
CENTRO DE INVESTIGACIONES EN QUIMICA BIOLOGICA DE CORDOBA
Unidad Ejecutora - UE
artículos
Título:
Glycogen storage disease type Ib without neutropenia generated by a novel splice site mutation in the glucose-6-phosphate translocase gene
Autor/es:
ANGARONI C.J., LABRUNE P., PETIT F., SASTRE D., CAPRA A.E., DODELSON DE KREMER R., ARGARAÑA C.E.
Revista:
MOLECULAR GENETICS AND METABOLISM
Referencias:
Año: 2006 vol. 88 p. 96 - 99
ISSN:
1096-7192
Resumen:
A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins.
