Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness

Journal article

Peer reviewed

Adam P DeLuca, Matthew C Weed, Christine M Haas, Jennifer A Halder and Edwin M Stone

JAMA ophthalmology, Vol.133(8), pp.967-968

08/2015

DOI: 10.1001/jamaophthalmol.2015.1463

PMID: 26022370

View Online

no abstract | observation

Polymerase Chain Reaction

Mutation

Audiometry

Microtubule-Associated Proteins - genetics

Humans

Retinitis Pigmentosa - genetics

Male

Hearing Loss, Sensorineural - genetics

Exome - genetics

Usher Syndromes - genetics

DNA Mutational Analysis

GTP Phosphohydrolases - genetics

Membrane Transport Proteins - genetics

Kinesin - genetics

Adult

Bardet-Biedl Syndrome - genetics

Guanylate Cyclase - genetics

Visual Acuity - physiology

Receptors, Cell Surface - genetics

Title: Subtitle: Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
Creators: Adam P DeLuca - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City
Matthew C Weed - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City
Christine M Haas - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City
Jennifer A Halder - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City
Edwin M Stone - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City2Howard Hughes Medical Institute, Iowa City, Iowa
Resource Type: Journal article
Publication Details: JAMA ophthalmology, Vol.133(8), pp.967-968
DOI: 10.1001/jamaophthalmol.2015.1463
PMID: 26022370
NLM abbreviation: JAMA Ophthalmol
ISSN: 2168-6165
eISSN: 2168-6173
Publisher: United States
Grant note: Howard Hughes Medical Institute
Language: English
Date published: 08/2015
Academic Unit: Iowa Neuroscience Institute; Center for Bioinformatics and Computational Biology; Ophthalmology and Visual Sciences
Record Identifier: 9983980034302771

50 Record Views