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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars