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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/2002/volume_11
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/2002/volume_11/issue_11/m/web http://hub.abes.fr/oup/periodical/hmg/2002/volume_11/issue_11/m/print
Date Copyrighted	2002
issue	11
is Is Part Of of	CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q Germline mutation of ARF in a melanoma kindred Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype Optimedin: a novel olfactomedin-related protein that interacts with myocilin Protein localization in the human eye and genetic screen of opticin The mitochondrial protein frataxin prevents nuclear damage Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

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