Condition: CATARACT, CRYSTALLINE ACULEIFORM


rs1337897299 in CRYGD;LOC100507443 gene and CATARACT, CRYSTALLINE ACULEIFORM PMID 18587492 2008 Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 23936409 2013 Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

rs121909595 in LOC100507443;CRYGD gene and CATARACT, CRYSTALLINE ACULEIFORM PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.

PMID 16446699 2006 A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.

PMID 19668596 2009 A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

PMID 28450710 2017 Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

PMID 19382745 2009 The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study.

PMID 10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.