Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

BACKGROUND: 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. RESULTS: We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoi...

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Detalhes bibliográficos
Main Authors: Colombo, Elisa A, Bazan, J Fernando, Negri, Gloria, Gervasini, Cristina, Elcioglu, Nursel H, Yucelten, Deniz, Altunay, Ilknur, Cetincelik, Umram, Teti, Anna, Del Fattore, Andrea, Luciani, Matteo, Sullivan, Spencer K, Yan, Albert C, Volpi, Ludovica, Larizza, Lidia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315733/
https://ncbi.nlm.nih.gov/pubmed/22269211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-7
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