Intellectual disability associated with a homozygous missense mutation in THOC6

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Beaulieu, Chandree L ^a   Huang, Lijia ^a   Innes, A Micheil ^b,c   Akimenko, Marie Andree ^d   Puffenberger, Erik G ^e   Schwartz, Charles ^f   Jerry, Paul ^g   Ober, Carole ^h   Hegele, Robert A ⁱ   McLeod, D Ross ^b,c   Schwartzentruber, Jeremy ^j   Majewski, Jacek ^j   Bulman, Dennis E ^a   Parboosingh, Jillian S ^b,c   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c ALBERTA CHILDREN'S HOSPITAL   (Canada)

^d UNIVERSITY OF OTTAWA   (Canada)

^e CLINIC FOR SPECIAL CHILDREN   (United States)

^f GREENWOOD GENETIC CENTER   (United States)

^g Paul Jerry Consulting Psychology Inc   (Canada)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ ROBARTS RESEARCH INSTITUTE   (Canada)

^j MCGILL UNIVERSITY   (Canada)

more..

Author keywords

Hutterite; Intellectual disability; mRNA export; THO TREX complex; THOC6

Indexed keywords

MESSENGER RNA;

APOPTOSIS; ARTICLE; CELLULAR DISTRIBUTION; CYTOPLASM; EXOME; EXON; EYE; FEMALE; GENE; GENE SEQUENCE; HELA CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; INTELLECTUAL IMPAIRMENT; MESENCEPHALON; MISSENSE MUTATION; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; THOC6 GENE; ANIMAL; GENETICS; MALE; ZEBRA FISH;

ANIMALS; EXOME; FEMALE; HUMANS; IN SITU HYBRIDIZATION; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; ZEBRAFISH;

EID: 84876680733     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-62     Document Type: Article

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