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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_7/m/web http://hub.abes.fr/oup/periodical/hmg/2002/volume_11/issue_7/m/print
Date Copyrighted	2002
issue	7
is Is Part Of of	Novel ENU-induced eye mutations in the mouse: models for human eye disease A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB) Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1) Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63 ERRATUM

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