Article
Novel complex disease allele mutations in cleidocranial dysplasia patients.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology - 1 Nov 2014
Anthonappa Robert P, Yan-Hui Fan, King Nigel M, Rabie Abu Bakr M, You-Qiang Song
Abstract excerpt
This study reports a novel identical complex disease allele harboring two non-synonymous mutations that were identified in two southern Chinese individuals of the same family with cleidocranial dysplasia (CCD). Blood samples were obtained from the proband, his parents, plus 100 matched control subjects. Exons 0 to 7 of the RUNX2 gene were amplified using specific primers and sequenced. Multiple sequence alignment...
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