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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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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Singh, Mandeep S., Broadgate, Suzanne, Mathur, Ranjana, Holt, Richard, Halford, Stephanie, MacLaren, Robert E.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Accès en ligne: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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