Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
about
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.The functional genomics laboratory: functional validation of genetic variants.Dedicated surveillance mechanism controls G-quadruplex forming non-coding RNAs in human mitochondria.
P2860
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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name
Whole-exome sequencing identif ...... nd severe multisystem disease.
@en
Whole-exome sequencing identif ...... nd severe multisystem disease.
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type
label
Whole-exome sequencing identif ...... nd severe multisystem disease.
@en
Whole-exome sequencing identif ...... nd severe multisystem disease.
@nl
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Whole-exome sequencing identif ...... nd severe multisystem disease.
@en
Whole-exome sequencing identif ...... nd severe multisystem disease.
@nl
P2093
P2860
P356
P1476
Whole-exome sequencing identif ...... and severe multisystem disease
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P2093
Ahmad Alodaib
Bruce Bennetts
Corinne Boehm
John Christodoulou
Lisa G Riley
Meredith J Wilson
Nara Sobreira
Nicole J Van Bergen
Wendy A Gold
P2860
P2888
P356
10.1038/EJHG.2016.128
P577
2016-01-01T00:00:00Z