Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
Background Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. It is a genetically heterogeneous disease with different mutations and forms of inheritance that presents with renal affection, hearing loss and eye defect...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2012-01-01
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| Series: | Clinical Medicine Insights: Pediatrics |
| Online Access: | https://doi.org/10.4137/CMPed.S7509 |