A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 238-245

  Deutsch, Eric C ^a   Santani, Avni B ^b   Perlman, Susan L ^c   Farmer, Jennifer M ^b   Stolle, Catherine A ^b   Marusich, Michael F ^d   Lynch, David R ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MitoSciences Inc   (United States)

Author keywords

Biomarker; Deletion; Diagnostic; Frataxin; Friedreich ataxia; Point mutation

Indexed keywords

BIOLOGICAL MARKER; FRATAXIN; MITOCHONDRIAL PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC VALUE; EXON; FEMALE; FIBROBLAST; FRIEDREICH ATAXIA; GENE DELETION; HETEROZYGOTE; HUMAN; IMMUNOASSAY; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; NON INVASIVE PROCEDURE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; WESTERN BLOTTING;

ADOLESCENT; ADULT; CHILD; FEMALE; FRIEDREICH ATAXIA; HUMANS; IMMUNOASSAY; IRON-BINDING PROTEINS; MALE; MOUTH MUCOSA; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77957244407     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.07.001     Document Type: Article

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