Chromosome instability and nibrin protein variants in NBS heterozygotes

European Journal of Human Genetics

Volumn 11, Issue 4, 2003, Pages 297-303

  Tanzarella, Caterina ^a   Antoccia, Antonio ^a   Spadoni, Emanuela ^b   di Masi, Alessandra ^a   Pecile, Vanna ^e   Demori, Eliana ^e   Varon, Raymonda ^c   Marseglia, Gian Luigi ^d   Tiepolo, Luciano ^b   Maraschio, Paola ^b  

^a Universita degli Studi di Roma   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c HUMBOLDT UNIVERSITY   (Germany)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e NONE

Author keywords

Heterozygotes; Nibrin; Nijmegen breakage syndrome; Radiosensitivity; Spontaneous chromosome instability; Variant NBS1 proteins

Indexed keywords

CHROMOSOME PROTEIN; NIBRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CELL LINE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FREQUENCY ANALYSIS; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; LYMPHOBLASTOID CELL; MALE; MICRODENSITOMETRY; MOLECULAR WEIGHT; NIJMEGEN BREAKAGE SYNDROME; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN VARIANT; RADIOSENSITIVITY; RELIABILITY; SENSITIVITY ANALYSIS; SIGNAL TRANSDUCTION; WESTERN BLOTTING; X RAY ANALYSIS;

EID: 0038364116     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200962     Document Type: Article

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