Associated Papers
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
Li CF et al.
American Journal of Medical Genetics. Part A, 2014
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Zhou YA et al.
Genetics and Molecular Biology, 2012
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
Gao WH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
Yan YS et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
Sligh JE et al.
The Journal of Biological Chemistry, 1992
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