dc.contributor.author |
Shah, Shaheen P |
en |
dc.contributor.author |
Wong, Fulton |
en |
dc.contributor.author |
Sharp, Dianne M |
en |
dc.contributor.author |
Vincent, Andrea |
en |
dc.date.accessioned |
2019-11-26T02:36:51Z |
en |
dc.date.issued |
2014-12 |
en |
dc.identifier.issn |
1381-6810 |
en |
dc.identifier.uri |
http://hdl.handle.net/2292/49225 |
en |
dc.description.abstract |
Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site. |
en |
dc.format.medium |
Print-Electronic |
en |
dc.language |
eng |
en |
dc.relation.ispartofseries |
Ophthalmic genetics |
en |
dc.rights |
Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. |
en |
dc.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
en |
dc.subject |
Humans |
en |
dc.subject |
Retinitis Pigmentosa |
en |
dc.subject |
Rhodopsin |
en |
dc.subject |
Histidine |
en |
dc.subject |
Proline |
en |
dc.subject |
Pedigree |
en |
dc.subject |
Electrophysiology |
en |
dc.subject |
Visual Acuity |
en |
dc.subject |
Visual Fields |
en |
dc.subject |
Point Mutation |
en |
dc.subject |
Adult |
en |
dc.subject |
European Continental Ancestry Group |
en |
dc.subject |
Male |
en |
dc.title |
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. |
en |
dc.type |
Journal Article |
en |
dc.identifier.doi |
10.3109/13816810.2014.924014 |
en |
pubs.issue |
4 |
en |
pubs.begin-page |
241 |
en |
pubs.volume |
35 |
en |
dc.rights.holder |
Copyright: The author |
en |
dc.identifier.pmid |
24918165 |
en |
pubs.end-page |
247 |
en |
pubs.publication-status |
Published |
en |
dc.rights.accessrights |
http://purl.org/eprint/accessRights/RestrictedAccess |
en |
pubs.subtype |
Research Support, Non-U.S. Gov't |
en |
pubs.subtype |
Journal Article |
en |
pubs.subtype |
Case Reports |
en |
pubs.elements-id |
443841 |
en |
pubs.org-id |
Medical and Health Sciences |
en |
pubs.org-id |
School of Medicine |
en |
pubs.org-id |
Ophthalmology Department |
en |
dc.identifier.eissn |
1744-5094 |
en |
pubs.record-created-at-source-date |
2014-11-14 |
en |
pubs.dimensions-id |
24918165 |
en |