Literature DB >> 19147918

Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China.

Wu-Zhong Yu1, Dong-Hui Qiu, Fang Song, Li Liu, Shao-Ming Liu, Yu-Wei Jin, Yan-Ling Zhang, Hong-Yun Zou, Jiang He, Quan Lei, Xing-Wen Liu.   

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Year:  2008        PMID： 19147918     DOI： 10.1007/s12041-008-0047-x

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  15 in total

1.  [The types and distributive features of gene mutation on beta-thalassemia in three districts in northwest China].

Authors:  W Yu; H Li; Y Zhang; D Chou; C Zhou; R Tian; Y Yang; Y Xie; Z Zhang; H Liu; Y Fu; R Chen; X Lu
Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi       Date:  1998-08

2.  Phenylketonuria mutations in Northern China.

Authors:  Fang Song; Yu-jin Qu; Ting Zhang; Yu-wei Jin; Hong Wang; Xiao-ying Zheng
Journal:  Mol Genet Metab       Date:  2005-10-26       Impact factor: 4.797

3.  Outcome of the patients detected by newborn screening in Japan.

Authors:  K Aoki; Y Wada
Journal:  Acta Paediatr Jpn       Date:  1988-08

4.  [Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].

Authors:  Fang Song; Yu-Wei Jin; Hong Wang; Yu-Min Zhang; Yan-Ling Yang; Ting Zhang
Journal:  Yi Chuan       Date:  2005-01

5.  Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.

Authors:  A Acosta; W Silva; T Carvalho; M Gomes; M Zago
Journal:  Hum Mutat       Date:  2001-02       Impact factor: 4.878

6.  Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

Authors:  Y Yang; M Drummond-Borg; J Garcia-Heras
Journal:  Hum Mutat       Date:  2001-06       Impact factor: 4.878

7.  [Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].

Authors:  N Wang; Y Zhu; K Xu; Z Qiu; W Song; S Huang
Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi       Date:  1999-02-10

Review 8.  Phenylketonuria mutations in Europe.

Authors:  Johannes Zschocke
Journal:  Hum Mutat       Date:  2003-04       Impact factor: 4.878

9.  [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].

Authors:  Fang Song; Yu-wei Jin; Hong Wang; Yan-ling Yang; Yu-min Zhang; Ting Zhang
Journal:  Zhongguo Yi Xue Ke Xue Yuan Xue Bao       Date:  2003-04

10.  Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

Authors:  Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Shi-Ping Chou; Szu-San Tseng; Yuan-Te Huang; Wuh-Liang Hwu
Journal:  Hum Mutat       Date:  2004-02       Impact factor: 4.878
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  2 in total

1.  Mutational spectrum of phenylketonuria in Jiangsu province.

Authors:  Ya-fen Chen; Hai-tao Jia; Zhong-hai Chen; Jia-ping Song; Yu Liang; Jing-jing Pei; Zhi-jun Wu; Jing Wang; Ya-li Qiu; Gang Liu; Dong-mei Sun; Xin-ye Jiang
Journal:  Eur J Pediatr       Date:  2015-04-19       Impact factor: 3.183

2.  Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Authors:  Nana Li; Haitao Jia; Zhen Liu; Jing Tao; Song Chen; Xiaohong Li; Ying Deng; Xi Jin; Jiaping Song; Liangtao Zhang; Yu Liang; Wei Wang; Jun Zhu
Journal:  Sci Rep       Date:  2015-10-27       Impact factor: 4.379
  2 in total

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