Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population

Gene

Volumn 529, Issue 1, 2013, Pages 80-87

  Zhu, Tianwen ^a   Ye, Jun ^a   Han, Lianshu ^a   Qiu, Wenjuan ^a   Zhang, Huiwen ^a   Liang, Lili ^a   Gu, Xuefan ^a  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Chinese Han population; Complex phenotypes; Phenotype genotype correlation

Indexed keywords

PHENYLALANINE;

AGED; ARTICLE; CHINESE; DISEASE ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HOSPITAL PATIENT; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PREDICTION; PRIORITY JOURNAL; PROGNOSIS;

ARBITRARY VALUE; AV; CHINESE HAN POPULATION; COMPLEX PHENOTYPES; MHP; MILD HYPERPHENYLALANINEMIA; PAH; PAHD; PHE; PHENOTYPE-GENOTYPE CORRELATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLALANINE HYDROXYLASE DEFICIENCY; PHENYLKETONURIA; PKU; PRA; PREDICTED RESIDUAL PAH ACTIVITY;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOMICS; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROGNOSIS;

EID: 84883558414     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.079     Document Type: Article

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