Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene

Ophthalmic Genetics

Volumn 26, Issue 3, 2005, Pages 119-124

  Schatz, Patrik ^a   Ponjavic, Vesna ^a   Andréasson, Sten ^a   McGee, Terri L ^b   Dryja, Thaddeus P ^b   Abrahamson, Magnus ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

ERG; IMPDH1; Inosine monophosphate dehydrogenase 1 gene; mfERG; Mutation; Phenotype; Retinitis pigmentosa, autosomal dominant

Indexed keywords

INOSINATE DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; DARK ADAPTATION; ELECTRORETINOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; HUMANS; IMP DEHYDROGENASE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RODS (RETINA); SWEDEN; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 32044463345     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500229090     Document Type: Article

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