Article
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
Molecular genetics and metabolism - 1 Feb 2011
Lau Chi-Kong, Hui Joannie, Fong Fion N Y, To Ka-Fai, Fok Tai-Fai, Tang Nelson L S, Tsui Stephen K W
Abstract excerpt
The diagnosis of glycogen storage disease (GSD) type IX is often complicated by the complexity of the phosphorylase kinase enzyme (PHK), and molecular analysis is the preferred way to provide definitive diagnosis. Here we reported two novel mutations found in two GSD type IX patients with different residual enzyme activities from Hong Kong, China using genetic analysis and, provided the molecular interpretation...
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