Mutational spectrum of phenylketonuria in the chinese han population: A novel insight into the geographic distribution of the common mutations

Pediatric Research

Volumn 67, Issue 3, 2010, Pages 280-285

  Zhu, Tianwen ^a   Qin, Shengying ^c   Ye, Jun ^a,b   Qiu, Wenjuan ^a,b   Han, Lianshu ^a,b   Zhang, Yafen ^a,b   Gu, Xuefan ^a,b  

^a Department of Endocrinology and Genetic Metabolism ^*  (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CHILD; CHINA; CHINESE; EXON; GENE MUTATION; GENE SEQUENCE; GEOGRAPHIC DISTRIBUTION; HUMAN; INTRON; MAJOR CLINICAL STUDY; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; CHI-SQUARE DISTRIBUTION; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; RESIDENCE CHARACTERISTICS;

EID: 76749088891     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181c9fb85     Document Type: Article

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