Your browser doesn't support javascript.
loading
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
Parzefall, Thomas; Lucas, Trevor; Ritter, Markus; Ludwig, Martin; Ramsebner, Reinhard; Frohne, Alexandra; Schöfer, Christian; Hengstschläger, Markus; Frei, Klemens.
Affiliation
  • Parzefall T; Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.
Audiol Neurootol ; 19(3): 203-9, 2014.
Article in En | MEDLINE | ID: mdl-24801666
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Blindness / Mutation, Missense / Eye Proteins / Nerve Tissue Proteins / Nervous System Diseases Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Audiol Neurootol Journal subject: AUDIOLOGIA / PSICOFISIOLOGIA Year: 2014 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Blindness / Mutation, Missense / Eye Proteins / Nerve Tissue Proteins / Nervous System Diseases Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Audiol Neurootol Journal subject: AUDIOLOGIA / PSICOFISIOLOGIA Year: 2014 Document type: Article Affiliation country: Country of publication: