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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

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