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Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.

作者信息

Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin J J, Van Broeckhoven C

机构信息

Born Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.

出版信息

Hum Mutat. 1997;9(1):47-52. doi: 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M.

DOI:10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M
PMID:8990008
Abstract
摘要

相似文献

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Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.1型遗传性运动感觉神经病中连接蛋白32(Cx32)基因的突变分析:鉴定出五个新突变
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Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.在希腊裔夏科-马里-图斯病患者中鉴定出的缝隙连接β1(GJB1)基因编码区的三个新突变:T55I、R164Q、V120E。简短突变编号236。在线。
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Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.伴有新型连接蛋白32突变的X连锁型夏科-马里-图斯病中的短暂性、复发性白质病变。
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引用本文的文献

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Mol Genet Genomic Med. 2015 Mar;3(2):143-54. doi: 10.1002/mgg3.126. Epub 2015 Jan 14.
2
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.患者外周神经病中赖氨酸 tRNA 合成酶功能丧失突变的复合杂合性。
Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.
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A fully atomistic model of the Cx32 connexon.Cx32连接子的全原子模型。
PLoS One. 2008 Jul 2;3(7):e2614. doi: 10.1371/journal.pone.0002614.
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A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.一种与连接蛋白46(GJA3)基因突变相关的新型“珍珠盒”白内障。
Mol Vis. 2007 Jun 4;13:797-803.
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Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.由连接蛋白32 C末端突变引起的半通道和缝隙连接通道形成改变。
J Neurosci. 1999 May 15;19(10):3752-60. doi: 10.1523/JNEUROSCI.19-10-03752.1999.
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Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.在一个伴有连接蛋白32基因Asn205Ser突变的夏科-马里-图斯病家族中,中枢视觉、听觉和运动通路受累情况。
J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):202-6. doi: 10.1136/jnnp.66.2.202.
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Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.遗传性运动感觉神经病1型(CMT1)和遗传性压迫易感性神经病(HNPP)中外周髓磷脂蛋白22基因神经特异性启动子的突变分析
J Med Genet. 1998 Jul;35(7):590-3. doi: 10.1136/jmg.35.7.590.
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A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.人类连接蛋白50基因(GJA8)中的一个错义突变是常染色体显性“带状粉状”白内障的基础,该基因位于1号染色体长臂。
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