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Open Access

Peer-reviewed

Research Article

Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu ,

Contributed equally to this work with: Ying Gu, Kangmo Lu, Guanghui Yang

Affiliation Prenatal Diagnosis Center, Maternal and Child Health Care Hospital, Lianyungang, Jiangsu, China
⨯
Kangmo Lu ,

Contributed equally to this work with: Ying Gu, Kangmo Lu, Guanghui Yang

Affiliation Prenatal Diagnosis Center, Chengdu Women's and Children's Central Hospital, Chengdu, Sichuan, China
⨯
Guanghui Yang ,

Contributed equally to this work with: Ying Gu, Kangmo Lu, Guanghui Yang

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Zhong Cen,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Li Yu,

Affiliation Life Technologies Company, Shanghai, China
⨯
Lin Lin,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Jing Hao,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Zhigang Yang,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Jiabao Peng,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Shujian Cui,

Affiliation Shanghai Find Bio-Tech Co., Ltd., Shanghai, China
⨯
Jian Huang

* E-mail: huangjchgc@hotmail.com

Affiliations National Engineering Center for Biochip at Shanghai, Shanghai, China, Shanghai-MOST Key Laboratory for Disease and Health Genomics, Chinese National Human Genome Center at Shanghai, Shanghai, China
⨯

Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu,
Kangmo Lu,
Guanghui Yang,
Zhong Cen,
Li Yu,
Lin Lin,
Jing Hao,
Zhigang Yang,
Jiabao Peng,
Shujian Cui

x

Published: April 4, 2014
https://doi.org/10.1371/journal.pone.0094100

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Mutation detection
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Substitution mutation
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Nonsense mutation
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Point mutation
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Polymerase chain reaction
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Mutation databases
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Dideoxy DNA sequencing
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Phenylketonuria
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