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Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Journal article   Open access

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F Staropoli, Winnie Xin, Guang Y Wen, Rosemary Barone, …
PloS one, Vol.7(1), pp.e29729-e29729
2012-01-03
PMCID: PMC3250487
PMID: 22235333

Abstract

Medicine Biology
url
https://doi.org/10.1371/journal.pone.0029729View
Published (Version of record) Open

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.271 Lysosomal Storage Disorders
1.271.673 Enzyme Replacement Therapy
Web Of Science research areas
Neurosciences
ESI research areas
Neuroscience & Behavior

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#3 Good Health and Well-Being

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