A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer

Congenital cataract-microcornea syndrome (CCMC) is a clinically and genetically heterogeneous condition characterized by lens opacities and microcornea. It appears as a distinct phenotype of heritable congenital cataract. Here we report a large Chinese family with autosomal dominant congenital catar...

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Detalles Bibliográficos
Autores principales: Wang, Kai Jie, Wang, Sha, Cao, Ni-Qian, Yan, Yong-Bin, Zhu, Si Quan
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Mutation in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087119/
https://www.ncbi.nlm.nih.gov/pubmed/21972112
http://dx.doi.org/10.1002/humu.21436

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