A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities
| Autor: | Jessika Johannsen, Maja Hempel, Jakob Matschke, Jonas Denecke, S. Mueller-Stoever, Tim M. Strom, Davor Lessel, J. Heinemeyer |
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| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
business.industry Nonsense mutation Muscular weakness Cardiomyopathy General Medicine 030204 cardiovascular system & hematology medicine.disease 03 medical and health sciences 0302 clinical medicine Respiratory failure Internal medicine Pediatrics Perinatology and Child Health Physical therapy Cardiology Medicine 030212 general & internal medicine Neurology (clinical) business Gene |
| Zdroj: | Neuropediatrics. 48:S1-S45 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-0037-1602929 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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