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Article

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

1 Jan 2008

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Share to Genetics and Neurodevelopmental Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18179898
DOI: 10.1016/j.ajhg.2007.09.009

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Related research

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Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular AtrophyPMID 18179898Read ↗

X-linked infantile spinal muscular atrophy: Clinical definition and molecular mappingSemantic proximity Read ↗

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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.Semantic proximity Read ↗

A novel UBE2A splice site mutation with intellectual disability type NascimentoSemantic proximity Read ↗

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.Semantic proximity Read ↗

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.Semantic proximity Read ↗

Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.Semantic proximity Read ↗

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.Semantic proximity Read ↗

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.Semantic proximity Read ↗

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.Semantic proximity Read ↗

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