Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

Human mutation

Volumn 23, Issue 2, 2004, Pages 206-

  Chien, Yin Hsiu ^a   Chiang, Shu Chuan ^a   Huang, Aichu ^a   Chou, Shi Ping ^a   Tseng, Szu San ^a   Huang, Yuan Te ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FOUNDER EFFECT; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; METHODOLOGY; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA; TAIWAN;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININE; CYSTEINE; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION, MISSENSE; NEONATAL SCREENING; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TAIWAN;

EID: 1442280665     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9215     Document Type: Article

References (0)