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Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 856-858, 2012.
Artículo en Chino | WPRIM | ID: wpr-353848
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.</p><p><b>METHODS</b>PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>A heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.</p><p><b>CONCLUSIONS</b>G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo I / Análisis de Secuencia de ADN / Glucosa-6-Fosfatasa / Genética / Mutación Tipo de estudio: Estudio pronóstico Límite: Child, preschool / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2012 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo I / Análisis de Secuencia de ADN / Glucosa-6-Fosfatasa / Genética / Mutación Tipo de estudio: Estudio pronóstico Límite: Child, preschool / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2012 Tipo del documento: Artículo