Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain–co...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Invest
Egile Nagusiak: Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P., Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F., Blankenstein, Oliver, Procter, Annie M., Dimitri, Paul, Wales, Jerry K.H., Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W., Chen, Wei, Kokai, George K., Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A., McKee, Shane A., Niemeyer, Charlotte M., Grüters, Annette, Achermann, John C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2017
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409795/
https://ncbi.nlm.nih.gov/pubmed/28346228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI91913
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak