Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China-Reference-Cited by-同舟云学术

Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China

Published:2018-07-26 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Li Nana,He Chunhua,Li Jing,Tao Jing^ORCID,Liu Zhen,Zhang Chunyan^ORCID,Yuan Yuan,Jiang Hui,Zhu Jun,Deng Ying,Guo Yixiong,Li Qintong^ORCID,Yu Ping,Wang Yanping

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-29640-y.pdf

Reference33 articles.

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2. Mitchell, J. J., Trakadis, Y. J. & Scriver, C. R. Phenylalanine hydroxylase deficiency. Genet Med 13, 697–707, https://doi.org/10.1097/GIM.0b013e3182141b48 (2011).

3. Shi, X. T. et al. Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience. JIMD Rep 6, 79–83, https://doi.org/10.1007/8904_2011_119 (2012).

4. Chien, Y. H. et al. Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. Hum Mutat 23, 206, https://doi.org/10.1002/humu.9215 (2004).

5. Waters, P. J., Parniak, M. A., Nowacki, P. & Scriver, C. R. In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum Mutat 11, 4–17, https://doi.org/10.1002/(SICI)1098-1004 (1998).

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