Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa

Archives of Ophthalmology

Volumn 126, Issue 9, 2008, Pages 1301-1307

  Fingert, John H ^a   Oh, Kean ^c   Chung, Mina ^d   Scheetz, Todd E ^a   Andorf, Jeaneen L ^a   Johnson, Rebecca M ^a   Sheffield, Val C ^a,b   Stone, Edwin M ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c ASSOCIATED RETINAL CONSULTANTS   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOL DEHYDROGENASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14Q; CLINICAL ARTICLE; DISEASE SEVERITY; DNA SEQUENCE; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; LINKAGE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM REPEAT;

ADOLESCENT; ADULT; ALCOHOL OXIDOREDUCTASES; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENOTYPE; HUMANS; LOD SCORE; MALE; PEDIGREE; PERIMETRY; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA;

EID: 51649108153     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.9.1301     Document Type: Article

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