Article
Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
Genetic testing and molecular biomarkers - 1 Jun 2010
Qiu Guangrong, Liu Caixia, Zhou Jingyi, Liu Peiyan, Wang Jun, Jiang Hongkun, Hou Zhiyan, Zhao Yanyan, Sun Kailai, Li-Ling Jesse
Abstract excerpt
BACKGROUND: X-linked hypophosphatemia (XLH) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, hypophosphatemia, and defective bone mineralization. Inactivating mutations of the PHEX gene located at Xp22.1 have been linked with this disease. Ethnic distribution of such mutations seems widespread but only a few mutations in the Chinese population...
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