Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cetincelik Umram"'
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 7 (2012)
Abstract 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 clini
Externí odkaz:
https://doaj.org/article/0d041cb0801742ec8844f186cbc0076c
Autor:
Lidia Larizza, J. Fernando Bazan, Cristina Gervasini, Gloria Negri, Nursel Elcioglu, Anna Teti, İlknur Kıvanç Altunay, Albert C. Yan, Ludovica Volpi, Elisa Colombo, Deniz Yucelten, Spencer K. Sullivan, Andrea Del Fattore, Umram Cetincelik, Matteo Luciani
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 7 (2012)
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 7 (2012)
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 pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9550970083f591b52edc0a57e21c28d
https://doi.org/10.1186/1750-1172-7-7
https://doi.org/10.1186/1750-1172-7-7