Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography

Pediatrics International

Volumn 47, Issue 1, 2005, Pages 1-6

  Watanabe, Atsuko ^a   Shimizu, Norikazu ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP7A; Denaturing high performance liquid chromatography; Inborn error of copper metabolism; Menkes disease; Molecular diagnosis

Indexed keywords

COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; DNA FRAGMENT; HETERODUPLEX;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COPPER METABOLISM; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC PROCEDURE; DNA SCREENING; ETHNOLOGY; EXON; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INBORN ERROR OF METABOLISM; MENKES SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE DEGENERATION; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; RECESSIVE INHERITANCE; WILD TYPE; X CHROMOSOME LINKED DISORDER;

CASE-CONTROL STUDIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JAPAN; MALE; MENKES KINKY HAIR SYNDROME; MUTATION;

EID: 14644392162     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2004.02012.x     Document Type: Article

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