A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

TY - JOUR

T1 - A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

AU - Hjortshøj, T Duelund

AU - Grønskov, K

AU - Brøndum-Nielsen, K

AU - Rosenberg, T

PY - 2009/3

Y1 - 2009/3

N2 - 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.

AB - 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.

KW - Adult

KW - Age of Onset

KW - Aged

KW - Bardet-Biedl Syndrome

KW - Chromatography, High Pressure Liquid

KW - DNA Mutational Analysis

KW - Denmark

KW - Female

KW - Founder Effect

KW - Fundus Oculi

KW - Genetic Predisposition to Disease

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Prevalence

KW - Protein Isoforms

KW - Proteins

KW - Retina

KW - Reverse Transcriptase Polymerase Chain Reaction

U2 - 10.1136/bjo.2007.131110

DO - 10.1136/bjo.2007.131110

M3 - Journal article

C2 - 18669544

SN - 0007-1161

VL - 93

SP - 409

EP - 413

JO - British Journal of Ophthalmology

JF - British Journal of Ophthalmology

IS - 3

ER -