Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Journal of Medical Genetics

Volumn 50, Issue 11, 2013, Pages 740-744

  Capo Chichi, José Mario ^a   Tcherkezian, Joseph ^b   Hamdan, Fadi F ^a   Décarie, Jean Claude ^a   Dobrzeniecka, Sylvia ^c   Patry, Lysanne ^a   Nadon, Marc Antoine ^a   Mucha, Bettina E ^a   Major, Philippe ^a   Shevell, Michael ^d   Bencheikh, Bouchra Ouled Amar ^c,e   Joober, Ridha ^f   Samuels, Mark E ^a   Rouleau, Guy A ^e   Roux, Philippe P ^b,g   Michaud, Jacques L ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b INSTITUTE FOR RESEARCH IN IMMUNOLOGY AND CANCER   (Canada)

^c CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f DOUGLAS MENTAL HEALTH UNIVERSITY INSTITUTE   (Canada)

^g UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTATHIONE TRANSFERASE; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MESSENGER RNA; TSC1 PROTEIN TSC2 PROTEIN COMPLEX PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CELL GROWTH; FEMALE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; NONSENSE MEDIATED MRNA DECAY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

CLINICAL GENETICS; MOLECULAR GENETICS;

CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MACROCEPHALY; MALE; MUTATION; PEDIGREE; TUBEROUS SCLEROSIS;

EID: 84890134229     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101680     Document Type: Article

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