Complete FXN deletion in a patient with Friedreich's ataxia

scientific article published on 12 June 2012

Complete FXN deletion in a patient with Friedreich's ataxia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/GTMB.2012.0012
P698PubMed publication ID22691228

P50authorJasper J. SarisQ68059231
Carine WoutersQ77393750
Rick van MinkelenQ114429246
P2093author name stringAns 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
P2860cites workCytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridizationQ29616823
P433issue9
P921main subjectFriedreich ataxiaQ913856
P304page(s)1015-1018
P577publication date2012-06-12
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleComplete FXN deletion in a patient with Friedreich's ataxia
P478volume16

Reverse relations

cites work (P2860)
Q42290672Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene
Q39975448Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
Q91430023Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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