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

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

Abstract 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...

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Xehetasun bibliografikoak
Egile Nagusiak: Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su, Ke Yao
Formatua: Artikulua
Hizkuntza:English
Argitaratua: BMC 2020-01-01
Saila:BMC Medical Genetics
Gaiak:
Autosomal recessive bestrophinopathy
BEST1
Mutation
Metabolomics
Sarrera elektronikoa:https://doi.org/10.1186/s12881-020-0951-3

Internet

https://doi.org/10.1186/s12881-020-0951-3

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