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Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation

✍ Scribed by BM Kisiel; G Kostrzewa; P Wlasienko; A Kruczek; M Gajdulewicz; D Maciejak; M Wisniewska; R Ploski; L Korniszewski

Book ID
110888222
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
108 KB
Volume
70
Category
Article
ISSN
0009-9163

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## Abstract Nijmegen breakage syndrome (NBS) is a human autosomal recessive disease characterized by genomic instability and enhanced cancer predisposition, in particular to lymphoma and leukemia. Recently, significantly higher frequencies of heterozygous carriers of the Slavic founder __NBS1__ mut