Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: An Asp226Asn mutation in the IMPDH1 gene

American Journal of Ophthalmology

Volumn 140, Issue 5, 2005, Pages

  Kozma, Petra ^a   Hughbanks Wheaton, Dianna K ^a   Locke, Kirsten G ^a   Fish, Garry E ^b   Gire, Anisa I ^c   Spellicy, Catherine J ^c   Sullivan, Lori S ^c   Bowne, Sara J ^c   Daiger, Stephen P ^c   Birch, David G ^a,d  

^a RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^b TEXAS RETINA ASSOCIATES   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; INOSINATE DEHYDROGENASE; INOSINATE DEHYDROGENASE 1; UNCLASSIFIED DRUG;

A WAVE; ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; B WAVE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; COLOR VISION; CONTROLLED STUDY; DARK ADAPTATION; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; EVALUATION; EYE FUNDUS; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; IMMUNE FUNCTION TEST; KINETICS; MALE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTOGRAPHY; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETINA; RETINA CONE; RETINA MACULA CYSTOID EDEMA; RETINA ROD; RETINITIS PIGMENTOSA; VISION; VISION TEST; VISUAL ACUITY; VISUAL FIELD;

EID: 28444447142     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.05.027     Document Type: Article

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