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听神经病相关基因OTOF研究进展 被引量:2

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出处 《第四军医大学学报》 北大核心 2009年第19期2047-2050,共4页 Journal of the Fourth Military Medical University
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  • 1王大勇,王秋菊,兰兰,赵亚丽,丁海娜,纵亮,韩东一.76例听神经病患者OTOF基因突变分析[J].听力学及言语疾病杂志,2007,15(6):432-437. 被引量:9
  • 2Arnold Starr,Brandon Isaacson,Henry J. Michalewski,Fan-Gang Zeng,Ying-Yee Kong,Paula Beale,George W. Paulson,Bronya J.B. Keats,Marci M. Lesperance. A Dominantly Inherited Progressive Deafness Affecting Distal Auditory Nerve and Hair Cells[J] 2004,Journal of the Association for Research in Otolaryngology(4):411~426

二级参考文献12

  • 1王秋菊,李庆忠,刘穹,郭维,顾瑞,杨伟炎,王荣光,沈岩,韩东一.遗传性听神经病的基因定位及候选基因筛查研究[J].中华耳科学杂志,2005,3(4):245-252. 被引量:12
  • 2Starr A, Picton TW, Sininger Y, et al. Auditory neuropathy[J]. Brain, 1996,119:741.
  • 3Yasunaga S, Grati M, Petit C, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness[J]. Nature Genet, 1999,21: 363.
  • 4Yasunaga S, Grati M, Petit C ,et al. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9 [J]. Am J Hum Genet, 2000,67: 591.
  • 5Adato A, Raskin L, Petit C ,et al. Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus[J]. Europ J Hum Genet, 2000, 8: 437.
  • 6Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss[J]. J Med Genet, 2002,39: 502.
  • 7Varga R, Kelley PM, Keats BJ, et al. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene[J]. J Med Genet,2003,40:45.
  • 8Tekin M, Akcayoz D, Incesulu A. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy[J]. Am J Med Genet, 2005,138A: 6.
  • 9Varga R, Avenarius MR, Kelley PM ,et al. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele[J]. J Med Genet, 2006,43: 576.
  • 10Rous I,Safieddine S.Petitl C,et al.Otoferlin,defective in a human deafness form,is essential for exocytosis at the auditory ribbon synapse[J].Crll,2005,08:40.

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