Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

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http://www.wikidata.org/entity/Q47943966
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Pontocerebellar hypoplasia.MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological DiseasesEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsMutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.The RNA exosome and RNA exosome-linked disease.Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
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Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

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http://www.wikidata.org/entity/Q47943966
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2013 nî lūn-bûn
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Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@en
Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@nl
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label
Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@en
Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@nl
prefLabel
Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@en
Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@nl
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Homozygous EXOSC3 mutation c.9 ...... a type 1 among the Czech Roma.
@en
P2093
P2860
P304
P31
P356
10.3109/01677063.2013.814651
P433
P478
P577
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