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Volumn 50, Issue 5, 2006, Pages 426-431
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Clinical and molecular findings in three Japanese patients with crystalline retinopathy
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Author keywords
Bietti crystalline corneoretinal dystrophy; CYP4V2; Gene mutation
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Indexed keywords
CYTOCHROME P450;
CYTOCHROME P450 CYP4V2;
UNCLASSIFIED DRUG;
ADULT;
AGED;
ARTICLE;
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY;
BLOOD SAMPLING;
CASE REPORT;
EXON;
FEMALE;
GENE DELETION;
GENE INSERTION;
GENE MUTATION;
GENE SEQUENCE;
HETEROZYGOSITY;
HOMOZYGOSITY;
HUMAN;
JAPAN;
MALE;
OPHTHALMOSCOPY;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
RETINOPATHY;
REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;
RNA EXTRACTION;
AGED;
CORNEAL DYSTROPHIES, HEREDITARY;
CRYSTALLINS;
CYTOCHROME P-450 ENZYME SYSTEM;
DIAGNOSIS, DIFFERENTIAL;
EXONS;
FEMALE;
HUMANS;
JAPAN;
MALE;
MIDDLE AGED;
MUTATION;
RETINAL DEGENERATION;
REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;
RNA;
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EID: 33749324466
PISSN: 00215155
EISSN: None
Source Type: Journal
DOI: 10.1007/s10384-006-0350-0 Document Type: Article |
Times cited : (35)
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References (9)
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