C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification

C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare, autosomal recessive disease. Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson syndrome (RTS) and dyskera...

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Detalhes bibliográficos
Main Authors: Mroczek, Seweryn, Krwawicz, Joanna, Kutner, Jan, Lazniewski, Michal, Kuciński, Iwo, Ginalski, Krzysztof, Dziembowski, Andrzej
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2012
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3435495/
https://ncbi.nlm.nih.gov/pubmed/22899009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.193169.112
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