A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

(2013) Vanita Berry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

(2013) Alpana Dave et al.   PLoS One

A P39R mutation at the N-terminal domain of human αB-crystallin regulates its oligomeric state and chaperone-like activity

(2012) Nobutaka Numoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: Influence of co-expression of HspB1

(2012) Ilangovan Raju et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Cataract mutation P20S of αB-crystallin impairs chaperone activity of αA-crystallin and induces apoptosis of human lens epithelial cells

(2008) Hui Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE