Cargando…
Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
Autores principales: | Kim, Yong Hoon, Joo, Kwang Sic, Seong, Moon-Woo, Park, Sung Sup, Woo, Se Joon |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Ophthalmological Society
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010465/ https://www.ncbi.nlm.nih.gov/pubmed/32037757 http://dx.doi.org/10.3341/kjo.2019.0083 |
Ejemplares similares
-
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
por: Shin, Seok Joon, et al.
Publicado: (2015) -
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)
por: Álvarez-Satta, María, et al.
Publicado: (2017) -
Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
por: Veleri, Shobi, et al.
Publicado: (2012) -
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
por: Manara, Elena, et al.
Publicado: (2019) -
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
por: Forsythe, Elizabeth, et al.
Publicado: (2023)