A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Levesque, Sebastien ^a,b,g   Morin, Charles ^a,c   Guay, Simon Pierre ^c,d   Villeneuve, Josee ^c   Marquis, Pascale ^b   Yik, Wing Y ^e   Jiralerspong, Sarn ^b   Bouchard, Luigi ^c,d   Steinberg, Steven ^f   Hacia, Joseph G ^e   Dewar, Ken ^b   Braverman, Nancy E ^b  

^a UNIVERSITÉ DE SHERBROOKE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c CHICOUTIMI HOSPITAL   (Canada)

^d UNIVERSITY OF SHERBROOKE   (Canada)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f KENNEDY KRIEGER INSTITUTE   (United States)

^g CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

Author keywords

Founder effect; Next generation sequencing; Peroxisome biogenesis disorders; Zellweger syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CANADA; CELL FUNCTION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FIBROBLAST CULTURE; FOUNDER EFFECT; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INCIDENCE; INFANT; LIVER BIOPSY; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PEROXISOME; PEROXISOME BIOGENESIS DISORDER; PEX6 GENE; RNA SPLICING; SEQUENCE ANALYSIS; ZELLWEGER SYNDROME;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOUNDER EFFECT; FRANCE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; QUEBEC; ZELLWEGER SYNDROME;

EID: 84864947720     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-72     Document Type: Article

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