Cargando…
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. T...
Autores principales: | Kim, Min Seok, Joo, Kwangsic, Seong, Moon-Woo, Kim, Man Jin, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543061/ https://www.ncbi.nlm.nih.gov/pubmed/31144483 http://dx.doi.org/10.3346/jkms.2019.34.e161 |
Ejemplares similares
-
Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
por: Kim, Min Seok, et al.
Publicado: (2019) -
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans
por: Joo, Kwangsic, et al.
Publicado: (2019) -
Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient
por: Lee, Yun Jeong, et al.
Publicado: (2020) -
Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients
por: Lee, Sang Ha, et al.
Publicado: (2022) -
Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
por: Kim, Yong Hoon, et al.
Publicado: (2020)