A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.

Journal of medical genetics

Volumn 43, Issue 1, 2006, Pages

  Arora, A ^a   Minogue, P J ^a   Liu, X ^a   Reddy, M A ^a   Ainsworth, J R ^a   Bhattacharya, S S ^a   Webster, A R ^a   Hunt, D M ^a   Ebihara, L ^a   Moore, A T ^a   Beyer, E C ^a   Berthoud, V M ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 50; EYE PROTEIN; GAP JUNCTION PROTEIN; MICROSATELLITE DNA;

CATARACT; CELL CULTURE; CELL JUNCTION; CHROMOSOME 1; CHROMOSOME SEGREGATION; DOMINANT GENE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HELA CELL; HUMAN; LETTER; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROTEIN TRANSPORT;

CATARACT; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 1; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GAP JUNCTIONS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HELA CELLS; HUMANS; LINKAGE (GENETICS); MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PROTEIN TRANSPORT; TUMOR CELLS, CULTURED;

EID: 33847131692     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.034108     Document Type: Letter

References (0)