Article
A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.
Genetics and molecular research : GMR - 14 Dec 2011
Fang C Y, Xue J J, Tan L, Jiang C H, Gao Q P, Liang D S, Wu L Q
Abstract excerpt
We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography. A heterozygous single-base...
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