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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,...
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| Prif Awduron: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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Elsevier
2012
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| Mynediad Ar-lein: | 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 |
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