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Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. HJMD is caused by mutations in CDH3 which encodes cadherin-3, a protein expressed in retinal pigment epithelium (RPE) cells that may have a key role in intercellular adhes...
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Publicado no: | Sci Rep |
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Main Authors: | , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4860587/ https://ncbi.nlm.nih.gov/pubmed/27157923 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep23674 |
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