Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening

Molecular and Cellular Probes

Volumn 24, Issue 4, 2010, Pages 233-235

  Zappu, Antonietta ^a   Lepori, Maria Barbara ^a   Incollu, Simona ^a   Noli, Maria Cristina ^a   De Virgiliis, Stefano ^a   Cao, Antonio ^b   Loudianos, Georgios ^c  

^a Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^b CNR   (Italy)

^c Territorial Department of Nephrology and Dialysis   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

WILSON DISEASE PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MASS SCREENING; MULTIPLEX POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SARDINIAN WILSON DISEASE; WILSON DISEASE;

ALLELES; BIOLOGICAL ASSAY; DNA; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HUMANS; ITALY; MUTATION; POLYMERASE CHAIN REACTION; TAQ POLYMERASE;

EID: 77954387104     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2010.01.004     Document Type: Article

References (4)

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3. Lovicu M., Dessi V., Zappu A., De Virgiliis S., Cao A., Loudianos G. An efficient strategy for molecular diagnosis of Wilson's disease in the Sardinian population. Clin Chem 2003, 49:496-498.
4. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.