Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

By Denoyelle Françoise  

Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2173-2177

Oxford University Press

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A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

By Morton C.C.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 361-366

Oxford University Press

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families

By Maestrini Elena  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1237-1243

Oxford University Press

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Erratum to Mutation and polymorphism analysis of the gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

By Miura Yuichi   Mardy Sek   Awaya Yutaka   Nihei Kenji   Endo Fumio   Matsuda Ichiro   Indo Yasuhiro  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 575-575

Springer Publishing Company

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Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease

By Takahashi Yoshitomo   Miyajima Hiroaki   Shirabe Susumu   Nagataki Shigenobu   Suenaga Akihito   Gitlin Jonathan D.  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 81-84

Oxford University Press

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