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Andrea Ballabio, Stylianos Antonarakis
Pathogenetics. 2008; 1: 1. Published online 2008 November 3. doi: 10.1186/1755-8417-1-1
PMCID:
PMC2580038
Abstract Full Text PDF–138K

Is Cited by the Following 2 Articles in this Archive:

On the Sequence-Directed Nature of Human Gene Mutation: The Role of Genomic Architecture and the Local DNA Sequence Environment in Mediating Gene Mutations Underlying Human Inherited Disease
David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki, Jian-Min Chen
Hum Mutat. Author manuscript; available in PMC 2012 October 1.
Published in final edited form as: Hum Mutat. 2011 October; 32(10): 1075–1099. Published online 2011 September 2. doi: 10.1002/humu.21557
PMCID:
PMC3177966
Free in PMC on 2012/10/01
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Louise LC Pinto, Taiane A Vieira, Roberto Giugliani, Ida VD Schwartz
Orphanet J Rare Dis. 2010; 5: 14. Published online 2010 May 28. doi: 10.1186/1750-1172-5-14
PMCID:
PMC2889886
Abstract Full Text PDF–490K Supplementary Material
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