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Article

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

Genetic testing - 1 Jan 2006

Di Masi Alessandra, Antoccia Antonio, Spadoni Emanuela, Varon-Mateeva Raymonda, Maraschio Paola, Tanzarella Caterina

Abstract excerpt

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by a marked predisposition to lymphoreticular malignancies. The rarity of the disease and the presence, in several cases, of a mild clinical phenotype make diagnosis difficult. The underlying gene, NBS1, consists of 16 exons and encodes nibrin, a member of the hMRE11/hRAD50/hNBS1 protein complex. In addition to the "Slavic...

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Identifiers

PMID: 16544999
DOI: 10.1089/gte.2006.10.24

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