@article{edb131ceabd44b0d9e11558efbae3d0f,
title = "A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands",
abstract = "Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found.",
keywords = "Adult, Age of Onset, Aged, Bardet-Biedl Syndrome, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Denmark, Female, Founder Effect, Fundus Oculi, Genetic Predisposition to Disease, Heterozygote, Homozygote, Humans, Male, Middle Aged, Prevalence, Protein Isoforms, Proteins, Retina, Reverse Transcriptase Polymerase Chain Reaction",
author = "Hjortsh{\o}j, {T Duelund} and K Gr{\o}nskov and K Br{\o}ndum-Nielsen and T Rosenberg",
year = "2009",
month = mar,
doi = "10.1136/bjo.2007.131110",
language = "English",
volume = "93",
pages = "409--13",
journal = "British Journal of Ophthalmology",
issn = "0007-1161",
publisher = "B M J Group",
number = "3",
}