Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 21
Results: 15
Genetic bases of severe junctionalepidermolysis bullosa presenting spontaneous amelioration with aging.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2453, doi. 10.1093/hmg/10.21.2453
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- Article
Transcriptional activity of multiplecopies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2373, doi. 10.1093/hmg/10.21.2373
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- Article
Comparative sequencing of a multicopysubtelomeric region containing olfactory receptor genes reveals multipleinteractions between non-homologous chromosomes.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2363, doi. 10.1093/hmg/10.21.2363
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- Article
Variance component linkage analysisindicates a QTL for femoral neck bone mineral density on chromosome1p36.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2447, doi. 10.1093/hmg/10.21.2447
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- Article
CAG repeat instability at SCA2locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2437, doi. 10.1093/hmg/10.21.2437
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- Article
A dominant repression domainin Tbx3 mediates transcriptional repression and cell immortalization: relevanceto mutations in Tbx3 that cause ulnar-mammary syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2403, doi. 10.1093/hmg/10.21.2403
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- Article
Understanding human disease mutationsthrough the use of interspecific genetic variation.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2319, doi. 10.1093/hmg/10.21.2319
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- Article
Functional variation of MC1Ralleles from red-haired individuals.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2397, doi. 10.1093/hmg/10.21.2397
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- Article
Gene replacement therapy in theretinal degeneration slow (rds)mouse:the effect on retinal degeneration following partial transductionof the retina.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2353, doi. 10.1093/hmg/10.21.2353
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- Article
Missense mutations in COL8A2,the gene encoding the α2 chain of typeVIII collagen, cause two forms of corneal endothelial dystrophy.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2415, doi. 10.1093/hmg/10.21.2415
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- Article
The phylogenetic distributionof frataxin indicates a role in iron-sulfur cluster protein assembly.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2463, doi. 10.1093/hmg/10.21.2463
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- Article
Oligomerization of polyalanineexpanded PABPN1 facilitates nuclear protein aggregation that is associatedwith cell death.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2341, doi. 10.1093/hmg/10.21.2341
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- Article
Bcl2-L-10, a novel anti-apoptoticmember of the Bcl-2 family, blocks apoptosis in the mitochondriadeath pathway but not in the death receptor pathway.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2329, doi. 10.1093/hmg/10.21.2329
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- Article
Centrosome disorganization infibroblast cultures derived from R6/2 Huntington’sdisease (HD) transgenic mice and HD patients.
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- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2425, doi. 10.1093/hmg/10.21.2425
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- Article
Comparison of Pkd1-targetedmutants reveals that loss of polycystin-1 causes cystogenesis andbone defects.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 21, p. 2385
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- Article