Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations
about
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 modelsThe structure and function of frataxin.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxiaFriedreich ataxia in Norway - an epidemiological, molecular and clinical studyFrataxin levels in peripheral tissue in Friedreich ataxia.Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Novel diagnostic paradigms for Friedreich ataxiaMutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Selected missense mutations impair frataxin processing in Friedreich ataxiaCompound heterozygous FXN mutations and clinical outcome in friedreich ataxia.Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, IsuHeart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats andFXNGene Exons in Population from Western India
P2860
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P2860
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations
description
im September 2004 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2004
@uk
name
Extension of the mutation spec ...... n and novel missense mutations
@en
Extension of the mutation spec ...... n and novel missense mutations
@nl
type
label
Extension of the mutation spec ...... n and novel missense mutations
@en
Extension of the mutation spec ...... n and novel missense mutations
@nl
prefLabel
Extension of the mutation spec ...... n and novel missense mutations
@en
Extension of the mutation spec ...... n and novel missense mutations
@nl
P2093
P2860
P356
P1476
Extension of the mutation spec ...... n and novel missense mutations
@en
P2093
A Konstanzer
C H Zühlke
E Schwinger
Y Hellenbroich
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201257
P577
2004-09-01T00:00:00Z