Article
PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
Gene - 22 Feb 2000
Zhang Y W, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease whose genetic locus has been located on chromosome 6p21, where the PEBP2alphaA/CBFA1 gene essential for osteogenesis also maps. Previously, several heterozygous mutations in PEBP2alphaA/CBFA1 were found in CCD patients. In this study, we identified six different types of mutations in PEBP2alphaA/CBFA1 in Japanese CCD patients. Four cases...
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