The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

American Journal of Human Genetics

Volumn 60, Issue 1, 1997, Pages 72-79

  Bürglen, Lydie ^a   Seroz, Thierry ^b   Miniou, Pierre ^a   Lefebvre, Suzie ^a   Burlet, Philippe ^a   Munnich, Arnold ^a   Pequignot, Evani Viegas ^a   Egly, Jean Marc ^b   Melki, Judith ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME MUTATION; CONTROLLED STUDY; DNA REPAIR; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HELA CELL; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; WERDNIG HOFFMANN DISEASE;

CENTROMERE; CHROMOSOMES, HUMAN, PAIR 5; GENE DELETION; HUMANS; PEPTIDES; RNA, MESSENGER; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TELOMERE; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII;

EID: 0031026977     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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