Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better

被引：11

作者：

Brahe, C ^{[1
]}

机构：

[1] Catholic Univ Rome, Inst Med Genet, I-00168 Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2000年 / 10卷 / 4-5期

关键词：

spinal muscular atrophy; survival motor neuron gene; SMN gene;

D O I：

10.1016/S0960-8966(99)00137-6

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：274 / 275

页数：2

共 12 条

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[4] Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number [J].

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[6] SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins [J].

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (20) :11167-11172

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[8] Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos [J].

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[9] Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy [J].

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