Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene [1]

Genetics in Medicine

Volumn 8, Issue 1, 2006, Pages 59-

  Huang, Taosheng ^a   Jong, Dae Whang ^a   Kimonis, Virginia ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT OPTIC ATROPHY; COLOR VISION DEFECT; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; LETTER; OPA1 GENE; SEX; VISUAL IMPAIRMENT; CHROMOSOME 3; DOMINANT GENE; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; SEX DIFFERENCE;

GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; SEX FACTORS;

EID: 33646549301     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000195630.47343.b6     Document Type: Letter

References (2)

1. Chen AS, Kovach MJ, Herman K, Avakian A et al. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet Med 2000;2(5):283-289.
2. Baris O, Delettre C, Amati-Bonneau P, Surget MO et al. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003;21(6):656.