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Article

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

24 Nov 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21102625
DOI: 10.1038/ejhg.2010.213

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletionsPMID 21102625Read ↗

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read ↗

SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.Semantic proximity Read ↗

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.Semantic proximity Read ↗

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.Semantic proximity Read ↗

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.Semantic proximity Read ↗

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?Semantic proximity Read ↗

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with <i>SAMHD1</i> mutationsSemantic proximity Read ↗

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.Semantic proximity Read ↗

SAMHD1 controls nucleoside-based cancer therapeutics, deoxyguanosine toxicity, and inflammationSemantic proximity Read ↗

Expanding the Phenotypic Spectrum of CACNA1H MutationsSemantic proximity Read ↗

Characterization of mitochondrial alterations in Aicardi-Goutières patients mutated in RNASEH2A and RNASEH2B genesSemantic proximity Read ↗

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneSemantic proximity Read ↗

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