Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria

Pediatric Research

Volumn 78, Issue 6, 2015, Pages 691-699

  Tao, Jing ^a,b   Li, Nana ^a   Jia, Haitao ^c   Liu, Zhen ^a   Li, Xiaohong ^a   Song, Jiaping ^c   Deng, Ying ^a   Jin, Xi ^a   Zhu, Jun ^a  

^a SICHUAN UNIVERSITY   (China)

^b SICHUAN UNIVERSITY   (China)

^c BGI SHENZHEN   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN; BIOPTERIN; SAPROPTERIN;

ARTICLE; CHINESE; CLINICAL ARTICLE; ENZYME ACTIVITY; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHENYLALANINEMIA; INTRON; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; ANALOGS AND DERIVATIVES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CLINICAL TRIAL; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; ETHNOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MULTICENTER STUDY; MUTATION; PHENYLKETONURIAS; PREDICTIVE VALUE;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOPTERIN; CHINA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PREDICTIVE VALUE OF TESTS;

EID: 84949958033     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2015.167     Document Type: Article

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