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A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
BACKGROUND AND OBJECTIVES: Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-c...
שמור ב:
| הוצא לאור ב: | J Neuromuscul Dis |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
IOS Press
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240603/ https://ncbi.nlm.nih.gov/pubmed/27858751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150107 |
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