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Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

作者信息

Yuan H J, Han D Y, Sun Q, Yan D, Sun H J, Tao R, Cheng J, Qin W, Angeli S, Ouyang X M, Yang S Z, Feng L, Cao J Y, Feng G Y, Wang Y F, Dai P, Zhai S Q, Yang W Y, He L, Liu X Z

出版信息

Clin Genet. 2008 Apr;73(4):391-4. doi: 10.1111/j.1399-0004.2008.00972.x. Epub 2008 Feb 27.

DOI:10.1111/j.1399-0004.2008.00972.x
PMID:18312449
Abstract
摘要

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Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.两个中国DFNA9家系中COCH的vWFA2结构域的新突变
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Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.一种新型COCH突变I109N的鉴定,突显了在DFNA9家系中观察到的相似临床特征。
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Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.一种新的耳蜗基因中的突变导致DFNA9,这是一种伴有前庭功能障碍的人类非综合征性耳聋。
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Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.常染色体显性遗传性听力损失家族中的垂直角膜条纹:DFNA9/COCH 。
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[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)].[从基因到疾病;一种中年起病的进行性耳蜗-前庭功能障碍(DFNA9)]
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Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.导致DFNA9感音神经性听力损失和前庭障碍的新型COCH p.V123E突变显示耳蜗蛋白翻译后切割和分泌受损。
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Absence of COCH mutations in patients with Meniere disease.
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Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.一个常染色体显性遗传晚发性感觉神经性听力损失和耳鸣的家族中发现的新型 COCH 突变。
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A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.一种新的COCH突变,V104del,损害耳蜗蛋白LCCL结构域的折叠并导致进行性听力损失。
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NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.LCCL结构域的核磁共振结构及其与DFNA9耳聋疾病的关联
EMBO J. 2001 Oct 1;20(19):5347-53. doi: 10.1093/emboj/20.19.5347.

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