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
10.1371/journal.pone.0029729
PLoS One
2012;7(1):e29729.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22235333/
Genes, Dominant / genetics HSP40 Heat-Shock Proteins / genetics Membrane Proteins / genetics Mutation Neuronal Ceroid-Lipofuscinoses / genetics Pedigree
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
PMC3250487
22235333
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
2012