Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 7
Results: 14
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823
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- Article
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 755, doi. 10.1093/hmg/11.7.755
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- Article
Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 841, doi. 10.1093/hmg/11.7.841
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- Article
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.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 733, doi. 10.1093/hmg/11.7.733
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A molecular basis for differential developmental anomalies in Axenfeld–Rieger syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 743, doi. 10.1093/hmg/11.7.743
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- Article
A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 769, doi. 10.1093/hmg/11.7.769
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- Article
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 799, doi. 10.1093/hmg/11.7.799
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- Article
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 815, doi. 10.1093/hmg/11.7.815
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Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 805, doi. 10.1093/hmg/11.7.805
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 833, doi. 10.1093/hmg/11.7.833
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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB).
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 853, doi. 10.1093/hmg/11.7.853
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- Article
Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 723, doi. 10.1093/hmg/11.7.723
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- Article
Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 791, doi. 10.1093/hmg/11.7.791
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- Article
Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
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- Human Molecular Genetics, 2002, v. 11, n. 7, p. 779, doi. 10.1093/hmg/11.7.779
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- Article