Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts

BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene c...

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Bibliografski detalji
Glavni autori: Zhao-Jing Lin, Jie-Yi Long, Juan Li, Fang-Na Wang, Wei Chu, Lei Zhu, Ya-Li Li, Liang-Liang Fan
Format: Članak
Jezik:English
Izdano: Frontiers Media S.A. 2024-02-01
Serija:Frontiers in Medicine
Teme:
congenital cataract
inherited cataract
MAF
whole exome sequencing
missense mutation
Online pristup:https://www.frontiersin.org/articles/10.3389/fmed.2024.1332992/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2024.1332992/full

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