Phenylketonuria mutations in Northern China

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 107-118

  Song, Fang ^a   Qu, Yu Jin ^a   Zhang, Ting ^a   Jin, Yu Wei ^a   Wang, Hong ^a   Zheng, Xiao Ying ^b  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

China; Genotype phenotype correlation; Mutation detection; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; ASIAN; CHINA; CHINESE; CONTROLLED STUDY; DATA BASE; DNA SEQUENCE; EUROPE; EVALUATION; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SILENCING; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTANT; NONSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPECTRUM;

EID: 28844503462     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.001     Document Type: Article

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