A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

Item
http://www.wikidata.org/entity/Q58157164
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryGeneration and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsConsensus clinical management guidelines for Friedreich ataxia.Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunitiesNovel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools.Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats andFXNGene Exons in Population from Western India
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A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

Item
http://www.wikidata.org/entity/Q58157164
description
im August 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 10 August 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2011
@uk
name
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@en
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@nl
type
label
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@en
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@nl
prefLabel
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@en
A novel deletion–insertion mut ...... re Friedreich ataxia phenotype
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A novel deletion-insertion mut ...... re Friedreich ataxia phenotype
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921