Condition: Cataract, Congenital Zonular, with Sutural Opacities
rs1264025914 in
CRYBA1 gene and
Cataract, Congenital Zonular, with Sutural Opacities
PMID 20142846 2010 A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.
PMID 22919269 2012 Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.
PMID 21850182 2011 A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
PMID 9788845 1998 Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
PMID 14598164 2004 A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.