scholarly article | Q13442814 |
P356 | DOI | 10.1089/GTMB.2012.0012 |
P698 | PubMed publication ID | 22691228 |
P50 | author | Jasper J. Saris | Q68059231 |
Carine Wouters | Q77393750 | ||
Rick van Minkelen | Q114429246 | ||
P2093 | author name string | Ans M W van den Ouweland | |
Dicky J J Halley | |||
Galhana M Bolman | |||
Cindy Becht-Noordermeer | |||
Elly P F Ippel | |||
J Marianne C Deelen-Manders | |||
Wout H Deelen | |||
P2860 | cites work | Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization | Q29616823 |
P433 | issue | 9 | |
P921 | main subject | Friedreich ataxia | Q913856 |
P304 | page(s) | 1015-1018 | |
P577 | publication date | 2012-06-12 | |
P1433 | published in | Genetic Testing and Molecular Biomarkers | Q15753742 |
P1476 | title | Complete FXN deletion in a patient with Friedreich's ataxia | |
P478 | volume | 16 |
Q42290672 | Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene |
Q39975448 | Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling. |
Q91430023 | Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays |
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