A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity

Journal of Medical Genetics

Volumn 34, Issue 3, 1997, Pages 196-202

  Tupler, Rossella ^a   Marseglia, Gian Luigi ^a   Stefanini, Miria ^b   Prosperi, Ennio ^b   Chessa, Luciana ^c   Nardo, Tiziana ^b   Marchi, Antonietta ^a   Maraschio, Paola ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b CNR   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Chromosome instability; Immunodeficiency; Nijmegen breakage syndrome

Indexed keywords

BLEOMYCIN;

ALLELE; ARTICLE; B CELL LYMPHOMA; B LYMPHOCYTE; CASE REPORT; CELL CYCLE; CELL CYCLE G1 PHASE; CELL CYCLE S PHASE; CHROMOSOME 14; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CYTOGENETICS; DNA SYNTHESIS INHIBITION; FIBROBLAST; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IONIZING RADIATION; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRIORITY JOURNAL; RADIOSENSITIVITY; SCHOOL CHILD; T LYMPHOCYTE;

AVES;

EID: 0031036968     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.3.196     Document Type: Article

References (12)

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