Mutations in TMEM231 cause joubert syndrome in french canadians

Journal of Medical Genetics

Volumn 49, Issue 10, 2012, Pages 636-641

  Srour, Myriam ^a   Hamdan, Fadi F ^a   Schwartzentruber, Jeremy A ^b   Patry, Lysanne ^a   Ospina, Luis H ^a   Shevell, Michael I ^c   Désilets, Valérie ^a   Dobrzeniecka, Sylvia ^a   Mathonnet, Géraldine ^a   Lemyre, Emmanuelle ^a   Massicotte, Christine ^a   Labuda, Damian ^a   Amrom, Dina ^a   Andermann, Eva ^b   Sébire, Guillaume ^d   Maranda, Bruno ^d   Rouleau, Guy A ^e   Majewski, Jacek ^b   Michaud, Jacques L ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DERIVATIVE; SMALL INTERFERING RNA; TMEM231 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CANADA; CELL MEMBRANE; CELLULAR DISTRIBUTION; DISEASE SEVERITY; EUKARYOTIC FLAGELLUM; EXOME; FRANCE; GENE MUTATION; GENE PRODUCT; GENE SEQUENCE; HUMAN; JOUBERT SYNDROME; KIDNEY CYST; MAJOR CLINICAL STUDY; PHENOTYPE; POLYDACTYLY; POPULATION GENETICS; PRIORITY JOURNAL; RETINOPATHY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BRAIN; CANADA; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; EXOME; EYE ABNORMALITIES; FEMALE; GENE ORDER; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINA; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84870294495     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101132     Document Type: Article

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