Učitavanje...
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). METHODS: Clinical evaluation of the family members included measuring visual acuity and fundos...
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| Glavni autori: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Molecular Vision
2012
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3472925/ https://ncbi.nlm.nih.gov/pubmed/23077400 |
| Oznake: |
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