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PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

BACKGROUND: Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX. METHODS: Thirteen Korean patients were tested f...

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Detalles Bibliográficos
Autores principales:	Choi, Rihwa, Park, Hyung-Doo, Kang, Ben, Choi, So Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Choe, Yon Ho
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839068/ https://www.ncbi.nlm.nih.gov/pubmed/27103379 http://dx.doi.org/10.1186/s12881-016-0295-1

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