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:
https://lup.lub.lu.se/record/4223555
- author
- 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
- organization
- publishing date
- 2014
- 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
- 2016-04-01 10:28:30
- date last changed
- 2025-04-04 14:58:33
@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 = {{https://lup.lub.lu.se/search/files/1872879/4437299.pdf}},
doi = {{10.1016/j.ajo.2013.12.010}},
volume = {{157}},
year = {{2014}},
}