Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy,...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2012
Aiheet:
Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516593/
https://ncbi.nlm.nih.gov/pubmed/23176820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.019
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia