Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of t...
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.
We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene. We detect the two novel C16orf57 mutations, c.232C>T...
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_0d041cb0801742ec8844f186cbc0076c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0d041cb0801742ec8844f186cbc0076c
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-7
