Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

BACKGROUND: Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 as...

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Detalles Bibliográficos
Autores principales: Tawfik, Caroline Atef, Elbagoury, Nagham Maher, Khater, Noha Ibrahim, Essawi, Mona Lotfi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9103117/
https://www.ncbi.nlm.nih.gov/pubmed/35549688
http://dx.doi.org/10.1186/s12886-022-02444-5

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