Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers

Genetic Testing

Volumn 10, Issue 1, 2006, Pages 24-30

  Di Masi, Alessandra ^a   Antoccia, Antonio ^a   Spadoni, Emanuela ^b   Varon Mateeva, Raymonda ^c   Maraschio, Paola ^b   Tanzarella, Caterina ^a  

^a ROMA TRE UNIVERSITY   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN;

ALLELE; ANALYTIC METHOD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CLINICAL ARTICLE; COMPLEX FORMATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXON; FAMILIAL CANCER; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; ITALY; LYMPHOMA; MALE; MOROCCO; NBS1 GENE; NIJMEGEN BREAKAGE SYNDROME; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RETICULOENDOTHELIAL SYSTEM;

ALLELES; CELL CYCLE PROTEINS; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; ITALY; MALE; MASS SCREENING; MUTATION; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 33645346766     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.24     Document Type: Article

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