Advanced

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Sharon, Dror; Al-Hamdani, Sermed; Engelsberg, Karl LU ; Mizrahi-Meissonnier, Liliana; Obolensky, Alexey; Banin, Eyal; Sander, Birgit; Jensen, Hanne; Larsen, Michael and Schatz, Patrik LU (2014) In American Journal of Ophthalmology 157(3). p.697-709
Abstract
To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy. To investigate whether Bestrophin may be expressed in normal human retina.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Ophthalmology
volume
157
issue
3
pages
697 - 709
publisher
Elsevier
external identifiers
  • pmid:24345323
  • wos:000332350100026
  • scopus:84894193841
ISSN
1879-1891
DOI
10.1016/j.ajo.2013.12.010
language
English
LU publication?
yes
id
140a80c1-daa1-4e2b-ab03-853c4361ce7d (old id 4223555)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24345323?dopt=Abstract
date added to LUP
2014-01-05 18:55:32
date last changed
2017-01-01 03:37:35
@article{140a80c1-daa1-4e2b-ab03-853c4361ce7d,
  abstract     = {To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy. To investigate whether Bestrophin may be expressed in normal human retina.},
  author       = {Sharon, Dror and Al-Hamdani, Sermed and Engelsberg, Karl and Mizrahi-Meissonnier, Liliana and Obolensky, Alexey and Banin, Eyal and Sander, Birgit and Jensen, Hanne and Larsen, Michael and Schatz, Patrik},
  issn         = {1879-1891},
  language     = {eng},
  number       = {3},
  pages        = {697--709},
  publisher    = {Elsevier},
  series       = {American Journal of Ophthalmology},
  title        = {Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.},
  url          = {http://dx.doi.org/10.1016/j.ajo.2013.12.010},
  volume       = {157},
  year         = {2014},
}