Deafblindness in French Canadians from Quebec: A predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

Genome Biology

Volumn 8, Issue 4, 2007, Pages

  Ebermann, Inga ^a   Lopez, Irma ^a   Bitner Glindzicz, Maria ^c   Brown, Carolyn ^a   Koenekoop, Robert Karel ^b   Bolz, Hanno Jörn ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CDH23 PROTEIN; CELL PROTEIN; GENOMIC DNA; NUCLEAR PROTEIN; USHER SYNDROME 1C PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UNCLASSIFIED DRUG; USH1C PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CANADA; CLINICAL ARTICLE; CONGENITAL BLINDNESS; CONTROLLED STUDY; EUROPEAN AMERICAN; FOUNDER EFFECT; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; RETINA DEGENERATION; USHER SYNDROME; USHER SYNDROME TYPE 1; VARIABLE NUMBER OF TANDEM REPEAT; ALLELE; COHORT ANALYSIS; ETHNOLOGY; FRANCE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; CANADA; COHORT STUDIES; FOUNDER EFFECT; FRANCE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MUTATION; QUEBEC; USHER SYNDROMES;

EID: 35748962325     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/gb-2007-8-4-r47     Document Type: Article

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