Condition: CATARACT 21, MULTIPLE TYPES
rs121917735 in
LOC101928230;MAF gene and
CATARACT 21, MULTIPLE TYPES
PMID 11772997 2002 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
PMID 24664492 2014 Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
PMID 16470690 2006 "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family."
rs121917736 in
MAF;LOC101928230 gene and
CATARACT 21, MULTIPLE TYPES
PMID 11772997 2002 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
PMID 16470690 2006 "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family."
PMID 24664492 2014 Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.