Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Item
http://www.wikidata.org/entity/Q47705355
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyBiallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Pontocerebellar hypoplasia.Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological DiseasesEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsCLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.The RNA exosome and RNA exosome-linked disease.De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
P2860

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Item
http://www.wikidata.org/entity/Q47705355
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
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2013年學術文章
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name
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@en
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@nl
type
label
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@en
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@nl
prefLabel
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@en
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Exome sequencing in a family w ...... ts a novel mutation in EXOSC3.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698