Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

American Journal of Human Genetics

Volumn 89, Issue 3, 2011, Pages 415-423

  Bernard, Genevive ^a,c   Chouery, Eliane ^b   Putorti, Maria Lisa ^c   Tétreault, Martine ^c   Takanohashi, Asako ^d   Carosso, Giovanni ^d   Clément, Isabelle ^c   Boespflug Tanguy, Odile ^e,f,g   Rodriguez, Diana ^g,h,i   Delague, Valérie ^j   Abou Ghoch, Joelle ^b   Jalkh, Nadine ^b   Dorboz, Imen ^g   Fribourg, Sebastien ^k   Teichmann, Martin ^k   Megarbane, André ^b,l   Schiffmann, Raphael ^m   Vanderver, Adeline ^d   Brais, Bernard ^c  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c MCGILL UNIVERSITY   (Canada)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g INSERM   (France)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

^j AIX MARSEILLE UNIVERSITY   (France)

^k UNIVERSITÉ DE BORDEAUX   (France)

^l Institute Jérôme Lejeune   (France)

^m BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; RNA POLYMERASE II;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CENTRAL NERVOUS SYSTEM; DEMYELINATING DISEASE; EXON; EYE MOVEMENT DISORDER; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPODONTIA; HYPOGONADOTROPIC HYPOGONADISM; INTRON; LEUKODYSTROPHY; MISSENSE MUTATION; NERVE BIOPSY; NUCLEOTIDE SEQUENCE; OLIGODONTIA; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN SYNTHESIS; RECESSIVE GENE; RNA TRANSCRIPTION; WHITE MATTER;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 10; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; QUEBEC; RNA POLYMERASE III; SEQUENCE ANALYSIS, DNA; TREMOR;

EID: 80052769310     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.07.014     Document Type: Article

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