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pro vyhledávání: '"Alapati, Akhila N."'
Autor:
Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, Voronchikhina, Marina, Soto-Hermida, Angel, Suk, John J, Alapati, Akhila N, Bartsch, Dirk-Uwe, Ayala-Ramirez, Raul, Zenteno, Juan C, Dinculescu, Astra, Jablonski, Monica M, Borooah, Shyamanga, Ayyagari, Radha
Publikováno v:
Human gene therapy, vol 30, iss 5
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::918000e240e28bd4393078c7e078c9d5
https://escholarship.org/uc/item/34p3z132
https://escholarship.org/uc/item/34p3z132
