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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
PURPOSE: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. METHOD: A total of 25 participants including 13 patients and 12 healthy family members from 6 Chinese families with bestrophi...
Autores principales: | Yang, Shangying, Li, Zhen, Cheng, Wanyu, Ma, Meijiao, Qi, Rui, Rui, Xue, Ren, Yinghua, Sheng, Xunlun, Rong, Weining |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834154/ https://www.ncbi.nlm.nih.gov/pubmed/36378562 http://dx.doi.org/10.1002/mgg3.2095 |
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