Advances in Huntington's disease diagnostics: Development of a standard reference material

Expert Review of Molecular Diagnostics

Volumn 6, Issue 4, 2006, Pages 587-596

  Levin, Barbara C ^a   Richie, Kristy L ^a   Jakupciak, John P ^a  

^a NATIONAL INSTITUTE OF STANDARDS AND TECHNOLOGY   (United States)

Author keywords

CAG trinucleotide repeat; Genetic testing; Huntington's disease; Molecular diagnostics; Quality control; Standard reference material

Indexed keywords

TRINUCLEOTIDE;

AUTOSOMAL DOMINANT INHERITANCE; CHOREA; CHROMOSOME 4; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; FAMILY HISTORY; GENETIC RISK; GENETIC VARIABILITY; HUNTINGTON CHOREA; MEDICAL SOCIETY; MENTAL DISEASE; METHODOLOGY; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; PREVALENCE; PROGENY; QUALITY CONTROL; REFERENCE DATABASE; REVIEW; SENSITIVITY ANALYSIS;

ALLELES; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNTINGTON DISEASE; MUTATION; REFERENCE STANDARDS; REPRODUCIBILITY OF RESULTS; RISK; TRINUCLEOTIDE REPEATS;

EID: 33746801598     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.6.4.587     Document Type: Review

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