Article
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.
World journal of pediatrics : WJP - 1 Nov 2012
Lei Hong-Lin, Ye Jun, Qiu Wen-Juan, Zhang Hui-Wen, Han Lian-Shu, Wang Yu, Gu Xue-Fan
Abstract excerpt
BACKGROUND: This paper aims to report GLB1 activities and mutation analysis of three patients from the mainland of China, one with Morquio B disease and two with GM1 gangliosidosis. METHODS: GLB1 activity and GLB1 gene mutation were analyzed in the three patients who were clinically suspected of having Morquio B disease or GM1 gangliosidosis. Novel mutations were analyzed by aligning GLB1 homologs, 100 control...
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