Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families-Reference-Cited by-同舟云学术

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

Published:2012-01-03 Issue:1 Volume:7 Page:e29729
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Velinov Milen,Dolzhanskaya Natalia,Gonzalez Michael,Powell Eric,Konidari Ioanna,Hulme William,Staropoli John F.,Xin Winnie,Wen Guang Y.,Barone Rosemary,Coppel Scott H.,Sims Katherine,Brown W. Ted,Züchner Stephan

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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4. Mutations in DNAJC5, encoding cysteine string protein alpha, cause autosomal-dominant adult onset Neuronal Ceroid Lipofuscinosis.;L Noskova;Am J Hum Genet,2011

5. A dominant form of Neuronal Ceroid Lipofuscinosis.;DH Boehme;Brain,1971

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