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Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner, Hannes; Etzler, Julia; Gogoll, Laura; Neesen, Jürgen; Stifter, Eva; Brandau, Oliver; Laccone, Franco.
Affiliation
  • Steinkellner H; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Etzler J; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Gogoll L; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Neesen J; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Stifter E; Department of Ophthalmology, Medical University of Vienna, Vienna, Austria.
  • Brandau O; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Laccone F; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Eur J Hum Genet ; 23(9): 1186-91, 2015 Sep.
Article in En | MEDLINE | ID: mdl-25469541
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / ADAM Proteins / Weill-Marchesani Syndrome / Homozygote Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Austria Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / ADAM Proteins / Weill-Marchesani Syndrome / Homozygote Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Austria Country of publication: Reino Unido