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  • Title: [Six novel mutations in PAH gene detected by sequencing].
    Author: Zhang Z, He YS, Peng SX, Wang FH, Jiang JH, Jing RJ, Cheng G, Xu J.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Aug; 21(4):305-8. PubMed ID: 15300621.
    Abstract:
    OBJECTIVE: To explore new mutation in phenylalanine hydroxylase (PAH) gene. METHODS: The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing. RESULTS: Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected. CONCLUSION: M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene.
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