Single-Step Scalable-Throughput Molecular Screening for Huntington Disease | Zendy

Clara R L Teo | Zendy; Wen Wang | Zendy; Hai Yang Law | Zendy; Caroline Lee | Zendy; Samuel S. Chong | Zendy

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Single-Step Scalable-Throughput Molecular Screening for Huntington Disease

Author(s) -

Clara R L Teo,

Wen Wang,

Hai Yang Law,

Caroline Lee,

Samuel S. Chong

Publication year - 2008

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2007.096503

Subject(s) - amplicon , trinucleotide repeat expansion , huntingtin , huntington's disease , biology , genetics , penetrance , allele , cutoff , microbiology and biotechnology , polymerase chain reaction , gene , pathology , medicine , disease , mutant , phenotype , physics , quantum mechanics

Huntington disease (HD) is a fatal autosomal dominant neurodegenerative disorder caused by an unstable expansion of the CAG trinucleotide repeat in exon 1 of the HTT (huntingtin) gene and typically has an adult onset. Molecular diagnosis and screening for HD currently involve separate amplification and detection steps.

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