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AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3

BACKGROUND: We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an aver...

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Detalles Bibliográficos
Main Authors: Wang, Q J, Li, Q Z, Rao, S Q, Lee, K, Huang, X S, Yang, W Y, Zhai, S Q, Guo, W W, Guo, Y F, Yu, N, Zhao, Y L, Yuan, H, Guan, J, Leal, S M, Han, D Y, Shen, Y
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2006
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564562/
https://ncbi.nlm.nih.gov/pubmed/16816020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.037929
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