Article
Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.
Journal of bone and mineral metabolism - 1 Jan 2001
Goseki-Sone M, Orimo H, Watanabe A, Hamatani R, Yokozeki M, Ohyama K, Kuroda T, Watanabe H, Miyazaki H, Shimada T, Oida S
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism...
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