Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Sara J BOWNE; Lori S SULLIVAN; John R HECKENLIVELY; Stephen P DAIGER; Sarah E MORTIMER; Lizbeth HEDSTROM; JINGYA JINGYA ZHU; Catherine J SPELLICY; Anisa I GIRE; Dianna HUGBBANKS-WHEATON; David G BIRCH; Richard A LEWIS

doi:10.1167/iovs.05-0868

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Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Journal article

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Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Sara J BOWNE, Lori S SULLIVAN, John R HECKENLIVELY, Stephen P DAIGER, Sarah E MORTIMER, Lizbeth HEDSTROM, JINGYA JINGYA ZHU, Catherine J SPELLICY, Anisa I GIRE, Dianna HUGBBANKS-WHEATON, …

Investigative ophthalmology & visual science, Vol.47(1), pp.34-42

2006

DOI: https://doi.org/10.1167/iovs.05-0868

PMCID: PMC2581444

PMID: 16384941

Abstract

Fundamental and applied biological sciences. Psychology

Vertebrates: nervous system and sense organs

Eye and associated structures. Visual pathways and centers. Vision

Retinopathies

Biological and medical sciences

Medical sciences

Enzymes

Genetic Disorders

Vision Disorders

Ophthalmology

The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.

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Title: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
Creators: Sara J BOWNE (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
Lori S SULLIVAN (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
John R HECKENLIVELY (Author) - Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States
Stephen P DAIGER (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
Sarah E MORTIMER (Author) - Department of Biochemistry, Brandeis University, Waltham, Massachusetts, United States
Lizbeth HEDSTROM (Author) - Department of Biochemistry, Brandeis University, Waltham, Massachusetts, United States
JINGYA JINGYA ZHU (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
Catherine J SPELLICY (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
Anisa I GIRE (Author) - Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States
Dianna HUGBBANKS-WHEATON (Author) - Retina Foun dation of the Southwest, Dallas, Texas, United States
David G BIRCH (Author) - Retina Foun dation of the Southwest, Dallas, Texas, United States
Richard A LEWIS (Author) - Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, United States
Publication Details: Investigative ophthalmology & visual science, Vol.47(1), pp.34-42
Publisher: Association for Research in Vision and Ophtalmology; Rockville, MD
Identifiers: 9923958179101921
Copyright: Copyright 2006 The Association for Research in Vision and Ophthalmology, Inc.
Academic Unit: Department of Chemistry; School of Arts and Sciences; Department of Biology
Language: English
Resource Type: Journal article

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

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