Characterization of a new BLM mutation associated with a topoisomerase IIα defect in a patient with Bloom's syndrome

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1427-1434

  Foucault, Frédéric ^a,c   Vaury, Christelle ^a   Barakat, Abdelhamid ^b,c   Thibout, Déborah ^a   Planchon, Philippe ^a   Jaulin, Christian ^a,c   Praz, Françoise ^a,c   Amor Guéret, Mounira ^a,c  

^a Inst d'Oncol Cell et Molec Hum   (France)

^b Institut Pasteur du Maroc   (Morocco)

^c CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DNA TOPOISOMERASE (ATP HYDROLYSING); MESSENGER RNA; PHENYLALANINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOM SYNDROME; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL LEVEL; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SISTER CHROMATID EXCHANGE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; ANTIGENS, NEOPLASM; BLOOM SYNDROME; DNA HELICASES; DNA TOPOISOMERASES, TYPE II; DNA TOPOISOMERASES, TYPE II, EUKARYOTIC; DNA-BINDING PROTEINS; HUMANS; ISOENZYMES; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT;

EID: 0030826311     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1427     Document Type: Article

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