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

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

<p>Abstract</p> <p>Background</p> <p>Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by <it>C16orf57 </it>mutations. To date 17 mutations have been identified in 31 PN patients.</p> <p>Results</p> <...

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Bibliographic Details
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
Format: Article
Language:English
Published: BMC 2012-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Poikiloderma with Neutropenia
Dyskeratosis Congenita
Rothmund-Thomson
<it>C16orf57</it>
Founder effect
Bioinformatic prediction of C16orf57 protein
2H phosphoesterase superfamily
RNA processing
Myelodysplasia
Online Access:http://www.ojrd.com/content/7/1/7

Internet

http://www.ojrd.com/content/7/1/7

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