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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Singh, Mandeep S., Broadgate, Suzanne, Mathur, Ranjana, Holt, Richard, Halford, Stephanie, MacLaren, Robert E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Sarrera elektronikoa: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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