Identification of three novel mutations in korean phenylketonuria patients: R53H, N207D, and Y325X

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Park, Young Shik ^a   Seoung, Chang Soo ^a   Lee, Soo Woong ^a   Oh, Keun Hee ^a   Lee, Dong Hwan ^b   Yim, Jeongbin ^c  

^a Inje University   (South Korea)

^b Soonchunhyang University   (South Korea)

^c Seoul National University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KOREA; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHEMISTRY; ENZYMOLOGY; GENETICS; HETEROZYGOTE; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; STOP CODON;

DNA; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; KOREA; MALE; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POINT MUTATION;

EID: 0032251640     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110140     Document Type: Article

References (9)

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