Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Journal of medical genetics

Volumn 39, Issue 8, 2002, Pages

  Marchbank, N J ^a   Craig, J E ^a   Leek, J P ^a   Toohey, M ^a   Churchill, A J ^a   Markham, A F ^a   Mackey, D A ^a   Toomes, C ^a   Inglehearn, C F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MICROSATELLITE DNA; OPA1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; ENZYMOLOGY; FEMALE; GENE DELETION; GENE DOSAGE; GENETICS; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; MALE; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

FEMALE; GENE DELETION; GENE DOSAGE; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; MALE; MICROSATELLITE REPEATS; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0036676330     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.8.e47     Document Type: Article

References (0)