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Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
PURPOSE: To investigate the genetic basis and its relationship to the clinical manifestations in a four generation Chinese family with autosomal dominant retinitis pigmentosa. METHODS: Ophthalmologic examinations including fundus photography, fundus autofluorescence imaging, fundus fluorescein angio...
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Publicado no: | Mol Vis |
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Main Authors: | , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Molecular Vision
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4812529/ https://ncbi.nlm.nih.gov/pubmed/27081294 |
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