Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Acta Ophthalmologica Scandinavica

Volumn 84, Issue 2, 2006, Pages 254-258

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

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal recessive inheritance; Electroretinography; Familial fleck retina; Fundus albipunctatus; Hereditary retinal disorder; RDH5 gene

Indexed keywords

PROTEIN RDH5; RETINOL DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ELECTRORETINOGRAPHY; EYE FUNDUS ALBIPUNCTATUS; FAMILY HISTORY; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; NIGHT BLINDNESS; OPHTHALMOSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; SLIT LAMP; VISUAL ACUITY;

ALCOHOL OXIDOREDUCTASES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; GENES, RECESSIVE; HUMANS; MALE; MUTATION; NIGHT BLINDNESS; PEDIGREE; PHENOTYPE; PHOTIC STIMULATION; POLYMERASE CHAIN REACTION; RETINAL DISEASES;

EID: 33645472234     PISSN: 13953907     EISSN: 16000420     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2005.00575.x     Document Type: Article

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