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

来源：

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

页码：976 / 978

页数：3

共 7 条

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ENGEL, E
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[3] Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
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[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 136A (03) : 287 - 305
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[5] 2-1
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[7] 2-A