Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eig...

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Hlavní autoři: Bolze, Alexandre, Mahlaoui, Nizar, Byun, Minji, Turner, Bridget, Trede, Nikolaus, Ellis, Steven R., Abhyankar, Avinash, Itan, Yuval, Patin, Etienne, Brebner, Samuel, Sackstein, Paul, Puel, Anne, Picard, Capucine, Abel, Laurent, Quintana-Murci, Lluis, Faust, Saul N., Williams, Anthony P., Baretto, Richard, Duddridge, Michael, Kini, Usha, Pollard, Andrew J., Gaud, Catherine, Frange, Pierre, Orbach, Daniel, Emile, Jean-Francois, Stephan, Jean-Louis, Sorensen, Ricardo, Plebani, Alessandro, Hammarstrom, Lennart, Conley, Mary Ellen, Selleri, Licia, Casanova, Jean-Laurent
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3677541/
https://ncbi.nlm.nih.gov/pubmed/23579497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1234864
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