Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

BACKGROUND: Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB. METHODS: Ophthalmic examinations were p...

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Detalles Bibliográficos
Autores principales: Ye, Panpan, Xu, Jia, Luo, Yueqiu, Su, Zhitao, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977271/
https://www.ncbi.nlm.nih.gov/pubmed/31969119
http://dx.doi.org/10.1186/s12881-020-0951-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977271/
https://www.ncbi.nlm.nih.gov/pubmed/31969119
http://dx.doi.org/10.1186/s12881-020-0951-3

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