Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
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Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Spectrum of combined respiratory chain defects.LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.The genetics and pathology of mitochondrial disease.Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.Molecular and functional variation in iPSC-derived sensory neurons.Adaptive Transcriptome Profiling of Subterranean Zokor, Myospalax baileyi, to High- Altitude Stresses in Tibet.Human diseases associated with defects in assembly of OXPHOS complexes
P2860
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P2860
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@ast
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@en
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@nl
type
label
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@ast
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@en
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@nl
prefLabel
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@ast
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@en
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@nl
P2093
P2860
P50
P1476
Mutations in APOPT1, encoding ...... tochrome c oxidase deficiency.
@en
P2093
Alessandra Torraco
Fathiya Al-Murshedi
Laura Melchionda
Lucia Morandi
Marjo S van der Knaap
Pinar Tekturk
René Stevens
Robert W Taylor
Steven Hardy
Tim M Strom
P2860
P304
P356
10.1016/J.AJHG.2014.08.003
P407
P50
P577
2014-08-28T00:00:00Z