article_metadata: Milen Velinov Natalia Dolzhanskaya Michael Gonzalez Eric Powell Ioanna Konidari William Hulme John F Staropoli Winnie Xin Guang Y Wen Rosemary Barone Scott H Coppel Katherine Sims W Ted Brown Stephan Züchner
article_metadata: 10.1371/journal.pone.0029729
article_metadata: PLoS One
article_metadata: 2012;7(1):e29729.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/22235333/
article_metadata: Genes, Dominant / genetics HSP40 Heat-Shock Proteins / genetics Membrane Proteins / genetics Mutation Neuronal Ceroid-Lipofuscinoses / genetics Pedigree
article_metadata: Genes, Dominant / genetics HSP40 Heat-Shock Proteins / genetics Membrane Proteins / genetics Mutation Neuronal Ceroid-Lipofuscinoses / genetics Pedigree Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Adult Exome / genetics Female Humans Male Middle Aged Sequence Analysis Young Adult HSP40 Heat-Shock Proteins Membrane Proteins cysteine string protein
article_metadata: PMC3250487
article_metadata: 22235333
article_metadata: Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
article_metadata: 2012