Pitfalls of homozygosity mapping: An extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

European Journal of Human Genetics

Volumn 14, Issue 11, 2006, Pages 1195-1203

  Laurier, Virginie ^a,b   Stoetzel, Corinne ^a   Muller, Jean ^c,d   Thibault, Christelle ^c   Corbani, Sandra ^e   Jalkh, Nadine ^e   Salem, Nabiha ^e   Chouery, Eliane ^e   Poch, Olivier ^c   Licaire, Serge ^c   Danse, Jean Marc ^a   Amati Bonneau, Patricia ^f   Bonneau, Dominique ^f   Mégarbané, André ^e   Mandel, Jean Louis ^c,g   Dollfus, Hélène ^a,b  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d LUXEMBOURG INSTITUTE OF HEALTH   (Luxembourg)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f ANGERS UNIVERSITY HOSPITAL   (France)

^g l'alimentation et l'Environnement   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN BBS10; PROTEIN BBS2; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; BARDET BIEDL SYNDROME; BODY MASS; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FAMILY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC CODE; GENETIC LINKAGE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY DISEASE; LEBANON; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYDACTYLY; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ALLELES; AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CHAPERONINS; CHROMOSOME MAPPING; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; LEBANON; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

VERTEBRATA;

EID: 33750396387     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201688     Document Type: Article

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