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Two novel PRPF31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa
OBJECTIVE: To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype. METHODS: Individuals from two unrelated families underwent full ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted fro...
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Principais autores: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Molecular Vision
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3850970/ https://ncbi.nlm.nih.gov/pubmed/24319336 |
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