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

Colombo E. A., Elcioglu N. H., Yucelten D., Altunay I., Cetincelik U., Teti A., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.7, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1186/1750-1172-7-7
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Poikiloderma with Neutropenia, Dyskeratosis Congenita, Rothmund-Thomson, C16orf57, Founder effect, Bioinformatic prediction of C16orf57 protein, 2H phosphoesterase superfamily, RNA processing, Myelodysplasia, ROTHMUND-THOMSON-SYNDROME, CLERICUZIO-TYPE POIKILODERMA, DYSKERATOSIS-CONGENITA, MYELODYSPLASIA, GENERATION, FAMILY, GENE
  • Marmara Üniversitesi Adresli: Evet

Özet

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.