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pro vyhledávání: '"Kamele Jorfi"'
Autor:
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Misagh Mohammadi‐Asl, Adnan Issa Al‐Badran, Mojdeh Roghani, Javad Mohammadi‐Asl, Kamele Jorfi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 10, Pp n/a-n/a (2024)
Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms—including se
Externí odkaz:
https://doaj.org/article/4518447d5e9049adb1c8fc4f78c59515
