Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Development...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2017
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409128/
https://ncbi.nlm.nih.gov/pubmed/28053047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw409
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