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Four novel GALC gene mutations in two Chinese patients with Krabbe disease

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机构： [a]Department of Clinical Genetics, Bayi Children's Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China [b]Department of Neurology, Bayi Children's Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China [c]Department of Neurology, General Hospital of People's Liberation Army, Beijing, China

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关键词： Galactocerebrosidase GALC mutations Krabbe disease Leukodystrophy Lysosomal storage diseases

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Krabbe disease (OMIM #. 245200) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC) activity. We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient. This is the first identification of GALC mutations in the Chinese population. © 2013 Elsevier B.V.

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出版当年[2012]版：

大类 | 3 区生物

小类 | 4 区遗传学

最新[2023]版：

大类 | 3 区生物学

小类 | 3 区遗传学

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