Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

Experimental and Molecular Medicine

Volumn 40, Issue 5, 2008, Pages 533-540

  Lee, Yong Wha ^a   Dong, Hwan Lee ^a   Kim, Nam Doo ^b   Lee, Seung Tae ^c   Jee, Young Ahn ^a   Choi, Tae Youn ^a   You, Kyoung Lee ^a   Kim, Sun Hee ^c   Kim, Jong Won ^c   Ki, Chang Seok ^c  

^a Soonchunhyang University College of Medicine   (South Korea)

^b Equispharm Co Ltd   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Asian continental ancestry group; Phenylalanine hydroxylase; Phenylketonurias; Sequence deletion

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; DNA FLANKING REGION; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC MODEL; HUMAN; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; PAH GENE; PHENYLKETONURIA;

EID: 57349200276     PISSN: 12263613     EISSN: 20926413     Source Type: Journal    
DOI: 10.3858/emm.2008.40.5.533     Document Type: Article

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