Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L).
作者信息
Lupski J R
出版信息
Am J Hum Genet. 2000 Jul;67(1):8-10. doi: 10.1086/302986. Epub 2000 Jun 7.
Abstract
摘要
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Am J Hum Genet. 2000 Jul;67(1):8-10. doi: 10.1086/302986. Epub 2000 Jun 7.
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本文引用的文献
1
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.2型遗传性运动感觉神经病的一种新变体可能是神经丝轻链基因发生突变的结果。
Am J Hum Genet. 2000 Jul;67(1):37-46. doi: 10.1086/302962. Epub 2000 Jun 7.
2
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.N- myc下游调控基因1在遗传性运动和感觉神经病-Lom中发生突变。
Am J Hum Genet. 2000 Jul;67(1):47-58. doi: 10.1086/302978. Epub 2000 May 30.
3
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.4B型夏科-马里-图思病由编码与肌管素相关蛋白2的基因突变引起。
Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542.
4
Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.遗传性运动和感觉神经病（近端显性型）基因定位于3q13.1。
Neuromuscul Disord. 1999 Oct;9(6-7):368-71. doi: 10.1016/s0960-8966(99)00021-8.
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Neurofilament functions in health and disease.神经丝蛋白在健康与疾病中的功能。
Curr Opin Neurobiol. 1999 Oct;9(5):554-60. doi: 10.1016/S0959-4388(99)00004-5.
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