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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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Choi, Rihwa, Park, Hyung-Doo, Kang, Ben, Choi, So Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Choe, Yon Ho
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4839068/
https://ncbi.nlm.nih.gov/pubmed/27103379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0295-1
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