Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Gu, Ying ^a   Lu, Kangmo ^b   Yang, Guanghui ^c   Cen, Zhong ^c   Yu, Li ^d   Lin, Lin ^c   Hao, Jing ^c   Yang, Zhigang ^c   Peng, Jiabao ^c   Cui, Shujian ^c   Huang, Jian ^e,f  

^a Maternal and Children's Health Hospital of Shenzhen City   (China)

^b CHENGDU WOMEN S AND CHILDREN S CENTRAL HOSPITAL   (China)

^c Shanghai Guoyuan Bio tech Co Ltd   (China)

^d Life Technologies Company   (China)

^e National Engineering Center for Biochip at Shanghai   (China)

^f CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

[No Author keywords available]

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; DIHYDROPTERIDINE REDUCTASE; GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HYDROLYASE; PTERIN 4A CARBINOLAMINE DEHYDRATASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG; BIOPTERIN; SAPROPTERIN;

ANALYTICAL EQUIPMENT; ARTICLE; BIOINFORMATICS; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA EXTRACTION; DNA FLANKING REGION; EXON; GCH1 GENE; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; HUMAN; ION TORRENT PERSONAL GENOME MACHINE SYSTEM; METABOLIC DISORDER; PAH GENE; PCBD1 GENE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PTS GENE; QDPR GENE; TETRAHYDROBIOPTERIN DEFICIENCY; ANALOGS AND DERIVATIVES; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGY; CHINA; DEFICIENCY; GENETICS; HIGH THROUGHPUT SEQUENCING; INDEL MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENYLKETONURIAS; PROCEDURES;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOPTERIN; CHINA; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDEL MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PEDIGREE; PHENYLKETONURIAS;

EID: 84899105817     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0094100     Document Type: Article

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