Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3

被引:15
|
作者
Benko, W. S. [2 ,3 ]
Hruska, K. S.
Nagan, N. [4 ]
Goker-Alpan, O. [3 ]
Hart, P. S. [3 ]
Schiffmann, R. [2 ]
Sidransky, E. [1 ]
机构
[1] NHGRI, NIH, Med Genet Branch, Sect Mol Neurogenet, Bethesda, MD 20892 USA
[2] NINDS, Metab Neurol Branch, Bethesda, MD 20892 USA
[3] NHGRI, NIH, Med Genet Branch, Bethesda, MD 20892 USA
[4] Athena Diagnost Inc, Worcester, MA USA
关键词
D O I
10.1212/01.wnl.0000305963.37449.32
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:976 / 978
页数:3
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