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In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium
Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, and hair. OCA patients display reduced best-corrected visual acuity, reduced to absent ocular pigmentation, abnormalities in fovea development, and/or abnormal decussa...
Autores principales: | George, Aman, Sharma, Ruchi, Pfister, Tyler, Abu-Asab, Mones, Hotaling, Nathan, Bose, Devika, DeYoung, Charles, Chang, Justin, Adams, David R., Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758966/ https://www.ncbi.nlm.nih.gov/pubmed/35021041 http://dx.doi.org/10.1016/j.stemcr.2021.11.016 |
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