A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: Utility of SNP arrays in genetically heterogeneous disorders

Clinical Genetics

Volumn 78, Issue 5, 2010, Pages 424-431

  Innes, A M ^a   Boycott, K M ^b   Puffenberger, E G ^c,d   Redl, D ^a   MacDonald, I M ^e   Chudley, A E ^f   Beaulieu, C ^a   Perrier, R ^a   Gillan, T ^g   Wade, A ^h   Parboosingh, J S ^a  

^a ALBERTA CHILDREN'S HOSPITAL   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c CLINIC FOR SPECIAL CHILDREN   (United States)

^d FRANKLIN AND MARSHALL COLLEGE   (United States)

^e UNIVERSITY OF ALBERTA   (Canada)

^f UNIVERSITY OF MANITOBA   (Canada)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^h UNIVERSITY OF CALGARY   (Canada)

Author keywords

Bardet Biedl syndrome; Hutterite; Identity by descent mapping; SNP microarray

Indexed keywords

RNA;

ADULT; ARTICLE; BARDET BIEDL SYNDROME; BBS2 GENE; CASE REPORT; GENE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INCIDENCE; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FOUNDER EFFECT; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

EID: 78149236376     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01481.x     Document Type: Article

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