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A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family
PURPOSE: To investigate the genetic basis for autosomal recessive severe early-onset retinitis pigmentosa (RP) in a consanguineous Israeli Muslim Arab family. METHODS: Haplotype analysis for all known genes underlying autosomal recessive RP was performed. Mutation screening of the underlying gene wa...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2329669/ https://ncbi.nlm.nih.gov/pubmed/18432314 |
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