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

British Journal of Ophthalmology

Volumn 93, Issue 3, 2009, Pages 409-413

  Duelund Hjortshoj T ^a   Gronskov K ^a   Brondum Nielsen K ^a   Rosenberg, T ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

ADOLESCENT; ADULT; AGED; ARTICLE; BARDET BIEDL SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENMARK; DISEASE REGISTRY; FAROE ISLANDS; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ISOLATION BY DISTANCE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RECORD; NATIONAL HEALTH ORGANIZATION; NUCLEOTIDE SEQUENCE; PATIENT IDENTIFICATION; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINITIS PIGMENTOSA;

ADULT; AGE OF ONSET; AGED; BARDET-BIEDL SYNDROME; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DENMARK; DNA MUTATIONAL ANALYSIS; 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;

EID: 61749089875     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2007.131110     Document Type: Article

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