Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China
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摘要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 of the deficient PHK activity. These two newly described mutations would be useful for the study of future GSD patients. (C) 2010 Elsevier Inc. All rights reserved.
著者Lau CK, Hui JN, Fong FNY, To KF, Fok TF, Tang NLS, Tsui SKW
期刊名稱Molecular Genetics and Metabolism
詳細描述To ORKTS: DOI: 10.1016/j.ymgme.2010.11.004
出版年份2011
月份2
日期1
卷號102
期次2
出版社ACADEMIC PRESS INC ELSEVIER SCIENCE
頁次222 - 225
國際標準期刊號1096-7192
電子國際標準期刊號1096-7206
語言英式英語
關鍵詞Glycogen storage disease; Mutation; Phosphorylase kinase
Web of Science 學科類別BIOCHEMISTRY & MOLECULAR BIOLOGY; Endocrinology & Metabolism; Genetics & Heredity; GENETICS & HEREDITY; Medicine, Research & Experimental; MEDICINE, RESEARCH & EXPERIMENTAL; Research & Experimental Medicine

上次更新時間 2020-14-09 於 00:42