Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Masotti, Cibele ^a   Ornelas, Camila C ^a   Splendore Gordonos, Alessandra ^b   Moura, Ricardo ^c   Félix, Têmis M ^d   Alonso, Nivaldo ^a   Camargo, Anamaria A ^c   Passos Bueno, Maria R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b STANFORD UNIVERSITY   (United States)

^c HOSPITAL ALEMÃO OSWALDO CRUZ   (Brazil)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; MESSENGER RNA; TREACHER COLLINS FRANCESCHETTI SYNDROME 1 PROTEIN; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; PHOSPHOPROTEIN; TCOF1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ADULT STEM CELL; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MANDIBULOFACIAL DYSOSTOSIS; MESENCHYME CELL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PLASTIC SURGERY; PREDICTION; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA ISOLATION; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON; WILD TYPE; CELL CULTURE; FLOW CYTOMETRY; GENETICS; MESENCHYMAL STEM CELL; METABOLISM; MIDDLE AGED; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FLOW CYTOMETRY; HUMANS; LEUKOCYTES; MALE; MANDIBULOFACIAL DYSOSTOSIS; MESENCHYMAL STEM CELLS; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC; YOUNG ADULT;

EID: 74049161269     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-136     Document Type: Article

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