Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram

Journal article

Open access

Peer reviewed

Peter J Francis, Gerald A Fishman, Karmen M Trzupek, Ian M MacDonald, Edwin M Stone and Richard G Weleber

Archives of ophthalmology (1960), Vol.123(8), pp.1146-1149

08/2005

DOI: 10.1001/archopht.123.8.1146

PMID: 16087855

Files and links (1)

url

https://doi.org/10.1001/archopht.123.8.1146View

Published (Version of record) Open Access

Case report

Phenotype

Choroideremia - physiopathology

Electroretinography

Humans

Exons - genetics

Male

rab GTP-Binding Proteins - genetics

Codon, Nonsense

Choroideremia - genetics

Retina - physiology

Adaptor Proteins, Signal Transducing

Alkyl and Aryl Transferases - genetics

Pedigree

Protein Prenylation - genetics

Child

Title: Subtitle: Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram
Creators: Peter J Francis - Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239-4197, USA
Gerald A Fishman
Karmen M Trzupek
Ian M MacDonald
Edwin M Stone
Richard G Weleber
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.123(8), pp.1146-1149
DOI: 10.1001/archopht.123.8.1146
PMID: 16087855
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Language: English
Date published: 08/2005
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980393902771

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