Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

By Griffin A.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2509-2514

Oxford University Press

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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

By Amano K.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1251-1262

Oxford University Press

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Mutations in the Wolfram syndrome 1 gene ( WFS1 ) are a common cause of low frequency sensorineural hearing loss

By Kurnool P.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2501-2508

Oxford University Press

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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

By Fukuoka Hisakuni   Kanda Yukihiko   Ohta Shuji   Usami Shin-ichi  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 510-515

Springer Publishing Company

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Targeted disruption of Slc19a2 , the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

By Forrest D.  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2951-2960

Oxford University Press

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