Literature DB >> 9452061

Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

Y S Park1, C S Seoung, S W Lee, K H Oh, D H Lee, J Yim.   

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Year:  1998        PMID： 9452061     DOI： 10.1002/humu.1380110140

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  The molecular basis of phenylketonuria in Koreans.

Authors:  Dong Hwan Lee; Soo Kyung Koo; Kwang-Soo Lee; Young-Joo Yeon; Hyun-Jeong Oh; Sang-Wun Kim; Sook-Jin Lee; Sung-Soo Kim; Jong-Eun Lee; Inho Jo; Sung-Chul Jung
Journal:  J Hum Genet       Date:  2004-10-16       Impact factor: 3.172

2.  Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Authors:  Jie Wang; Bo Zhu; Lichun Zhang; Yitong Zhao; Xiaohua Wang; Yueqi Jia
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2021-08-25

3.  Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Authors:  Ting Chen; Weize Xu; Dingwen Wu; Jiamin Han; Ling Zhu; Fan Tong; Rulai Yang; Zhengyan Zhao; Pingping Jiang; Qiang Shu
Journal:  Sci Rep       Date:  2018-11-20       Impact factor: 4.379
  3 in total

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