CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy

Ophthalmic Research

Volumn 37, Issue 5, 2005, Pages 262-269

  Gekka, Tamaki ^a   Hayashi, Takaaki ^a   Takeuchi, Tomokazu ^a   Goto Omoto, Satoshi ^a   Kitahara, Kenji ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal recessive inheritance; Electroretinography; Exon skipping; Nonsense mutation; Retinal dystrophy; Splice site mutation

Indexed keywords

AMINO ACID;

ADULT; ALLELE; AMPLITUDE MODULATION; ARTICLE; ASIAN AMERICAN; AUTOSOMAL RECESSIVE DISORDER; BIETTI CRYSTALLINE DYSTROPHY; BLOOD SAMPLING; CASE REPORT; CONTROLLED STUDY; CRYSTAL; DNA DETERMINATION; ELECTRORETINOGRAM; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PATIENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; VISUAL ACUITY; VISUAL FIELD;

CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PHOTORECEPTORS, VERTEBRATE; RETINAL DEGENERATION; RNA PRECURSORS; RNA SPLICE SITES; VISUAL ACUITY; VISUAL FIELDS;

EID: 24744446194     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000087214     Document Type: Article

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