Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset reti...
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Purpose
To report novel mutations in the
CRB1
gene in two patients with early-onset retinal dystrophy (EORD) and the longitudinal clinical course of EORD.
Patients and methods
The patients were two unrelated Japanese children. Standard ophthalmic examinations including perimetry, electroretinography, and optical coherence tomography...
Alternative Titles
Full title
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1694979655
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1694979655
Other Identifiers
ISSN
0012-4486
E-ISSN
1573-2622
DOI
10.1007/s10633-014-9464-8
