Diagnosis of copper transport disorders

Current Protocols in Human Genetics

Volumn , Issue SUPPL. 70, 2011, Pages

  Møller, Lisbeth B ^a   Hicks, Julia D ^b   Holmes, Courtney S ^c   Goldstein, David S ^c   Brendl, Cornelia ^d   Huppke, Peter ^d   Kaler, Stephen G ^b  

^a Kennedy Centre   (Denmark)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Catechols; Copper; Menkes disease; Multiplex ligation dependent probe amplification; Multiplex polymerase chain reaction; Polymerase chain reaction; Wilson disease

Indexed keywords

3,4 DIHYDROXYPHENYLETHYLENE GLYCOL; CERULOPLASMIN; COPPER; DIHYDROXYPHENYLACETIC ACID; DOPA; DOPAMINE; NORADRENALIN;

ARTICLE; ATOX1 GENE; ATP7A GENE; CCS GENE; CHORION VILLUS SAMPLING; COPPER METABOLISM; COPPER TRANSPORT DISORDER; CTR1 GENE; DIAGNOSTIC VALUE; ELECTROCHEMICAL DETECTION; EXON; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FIBROBLAST; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH RISK POPULATION; HUMAN; MENKES SYNDROME; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

EID: 82455209359     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg1709s70     Document Type: Article

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