Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

Journal of Molecular Diagnostics

Volumn 8, Issue 1, 2006, Pages 128-132

  Cagnoli, Claudia ^a   Stevanin, Giovanni ^b   Michielotto, Chiara ^c   Promis, Giovanni Gerbino ^c   Brussino, Alessandro ^a   Pappi, Patrizia ^c   Durr, Alexandra ^b   Dragone, Elisa ^c   Viemont, Michelle ^b   Gellera, Cinzia ^d   Brice, Alexis ^b   Migone, Nicola ^a,c   Brusco, Alfredo ^a,c  

^a UNIVERSITY OF TURIN   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c MOLINETTE HOSPITAL   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 7; GENE PRODUCT; PROTEIN SCA2; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FETUS; FLUORESCENCE ANALYSIS; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; HUMAN; INHERITANCE; NUCLEOTIDE REPEAT; PARENT; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RELIABILITY; SHORT TANDEM REPEAT; SPINOCEREBELLAR DEGENERATION; STANDARDIZATION; SYMPTOMATOLOGY;

EID: 32944454491     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050043     Document Type: Article

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