Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

BACKGROUND: TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS: We performed exome sequencing and selective muta...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Koch, Johannes, Freisinger, Peter, Feichtinger, René G, Zimmermann, Franz A, Rauscher, Christian, Wagentristl, Hans P, Konstantopoulou, Vassiliki, Seidl, Rainer, Haack, Tobias B, Prokisch, Holger, Ahting, Uwe, Sperl, Wolfgang, Mayr, Johannes A, Maier, Esther M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2015
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422538/
https://ncbi.nlm.nih.gov/pubmed/25887401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0254-5
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