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R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
Verver, E; Pecci, A; De Rocco, D; Ryhänen, S; Barozzi, S; Kunst, H; Topsakal, V; Savoia, A.
Affiliation
  • Verver E; Department of Otorhinolaryngology and Head & Neck Surgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Pecci A; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
  • De Rocco D; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Ryhänen S; Clinic for Hematology, Oncology and Stem Cell Transplantation, Hospital for Children and Adolescent Helsinki University Central Hospital, Helsinki, Finland.
  • Barozzi S; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
  • Kunst H; Radboud university medical center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, the Netherlands.
  • Topsakal V; Department of Otorhinolaryngology and Head & Neck Surgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Savoia A; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Clin Genet ; 88(1): 85-9, 2015 Jul.
Article in En | MEDLINE | ID: mdl-24890873
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Myosin Heavy Chains / Molecular Motor Proteins / Mutation, Missense / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2015 Type: Article Affiliation country: Netherlands
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Myosin Heavy Chains / Molecular Motor Proteins / Mutation, Missense / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2015 Type: Article Affiliation country: Netherlands