doi: 10.1038/ejhg.2012.298.
Epub 2013 Jan 16.
Clinical utility gene card for: poikiloderma with neutropenia
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- PMID: 23321617
- PMCID: PMC3778337
- DOI: 10.1038/ejhg.2012.298
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Clinical utility gene card for: poikiloderma with neutropenia
Eur J Hum Genet.
2013 Oct.
No abstract available
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References
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- Clericuzio C, Hoyme HE, Asse JM. Immune deficient poikiloderma: a new genodermatosis. Am J Hum Genet. 1991;49 ((Suppl:A661.
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- Shchepachev V, Wischnewski H, Missaglia E, et al. Mpn1, Mutated in Poikiloderma with Neutropenia, is a conserved 3′-5′ RNA exonuclease processing U6 snRNA. Cell Rep. 2012;2:855–865. - PubMed
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