Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy

Ophthalmic Genetics

Volumn 20, Issue 4, 1999, Pages 219-224

  Mashima, Yukihiko ^a,d   Weleber, Richard G ^b,c   Kennaway, Nancy G ^c   Inana, George ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d KEIO UNIVERSITY   (Japan)

Author keywords

Genotype phenotype correlation; Gyrate atrophy; Ornithine aminotransferase; Viatmin B6 responsive

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DOSE RESPONSE; ENZYME DEFECT; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MICHAELIS CONSTANT; PHENOTYPE; PRIORITY JOURNAL; RETINA GYRATE ATROPHY;

EID: 0033383021     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.4.219.2271     Document Type: Article

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