Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Yves, Brandenburg"'
Autor:
Andrew, Yoon, Guang, Peng, Yves, Brandenburger, Yves, Brandenburg, Ornella, Zollo, Wei, Xu, Eduardo, Rego, Davide, Ruggero
Publikováno v:
Science. 312:902-906
The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA). DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized by bone marrow failure, skin abnormalities, and increased susceptibility