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Novel Deletion in the Pre-mRNA Splicing Gene PRPF31 Causes Autosomal Dominant Retinitis Pigmentosa in a Large Chinese Family
We report the identification of a novel 12 bp deletion of the pre-mRNA splicing gene PRPF31 in a large Chinese family with autosomal dominant retinitis pigmentosa (adRP). This mutation results in the deletion of four amino acids (ΔH(111)K(112)F(113)I(114)) including H(111), an amino acid residue tha...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1579744/ https://ncbi.nlm.nih.gov/pubmed/12923864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.20224 |
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