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Article

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

BMC medical genetics - 21 Apr 2016

Choi Rihwa, Park Hyung-Doo, Kang Ben, Choi So Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Choe Yon Ho

Abstract excerpt

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 for PHKA2 mutations using direct sequencing and a multiplex polymerase chain reaction method. A comprehensive review...

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Identifiers

PMID: 27103379
DOI: 10.1186/s12881-016-0295-1
PMCID: PMC4839068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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