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：

NEUROLOGY | 2008年 / 70卷 / 12期

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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[4]

Nelis E, 1999, HUM MUTAT, V13, P11, DOI 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.3.CO

[5]

2-1

[6]

Silander K, 1998, HUM MUTAT, V12, P59, DOI 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO

[7]

2-A

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