Rongkui Huang

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AIMS Hypophosphatasia, a rare inherited disease characterized by defective mineralization of bone and teeth, is caused by various mutations in the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene. Our aim was to determine the mutations on TNSALP gene in three Chinese children diagnosed as having hypophosphatasia. METHODS Genomic DNA was(More)
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal dominant benign osteopetrosis forms. In the present study, the clinical, biochemical and(More)
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