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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_4/m/print http://hub.abes.fr/oup/periodical/hmg/2002/volume_11/issue_4/m/web
Date Copyrighted	2002
issue	4
is Is Part Of of	Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFα expression and caspase-2 activation Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I Aire deficient mice develop multiple features of APECED phenotype and show altered immune response A candidate molecular mechanism for the association of an intronic polymorphism of FE65 with resistance to very late onset dementia of the Alzheimer type A human H19 transgene exhibits impaired paternal-specific imprint acquisition and maintenance in mice Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

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