Go to content
UR Home

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Ratnapriya, R., Zhan, X., Fariss, R. N. and Weber, Bernhard H. F. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics 23, pp. 5827-5837.

Full text not available from this repository.

at publisher (via DOI)

at PubMed


Abstract

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four ...

plus


Export bibliographical data



Item type:Article
Date:2014
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1093/hmg/ddu276DOI
24899048PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35171
Owner only: item control page
  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons