TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Molecular Vision

Volumn 18, Issue , 2012, Pages 1849-1857

  Désir, Julie ^a   Coppieters, Frauke ^b   van Regemorter, Nicole ^a   de Baere, Elfride ^b   Abramowicz, Marc ^a   Cordonnier, Monique ^a  

^a ERASME HOSPITAL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MITOCHONDRIAL DNA; TRANSMEMBRANE PROTEIN 126A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; AUTOSOMAL RECESSIVE OPTIC ATROPHY; CHROMOSOME 11Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SENSORIMOTOR NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSMEMBRANE PROTEIN 126A GENE; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 11; CONSANGUINITY; GENES, RECESSIVE; GENETIC LOCI; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; OPTIC ATROPHY; PEDIGREE; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84864308296     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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