Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 1
Results: 11
Domain disruption and mutation of the bZIP transcriptionfactor, MAF,associated with cataract, ocularanterior segment dysgenesis and coloboma.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 33, doi. 10.1093/hmg/11.1.33
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- Article
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) aremutated in non-bullous congenital ichthyosiform erythroderma (NCIE)linked to chromosome 17p13.1.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 107, doi. 10.1093/hmg/11.1.107
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Distinct subcellular expression of endogenous polycystin-2in the plasma membrane and Golgi apparatus of MDCK cells.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 59, doi. 10.1093/hmg/11.1.59
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- Article
Disease-associated mutations in L1 CAM interferewith ligand interactions and cell-surface expression.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 1, doi. 10.1093/hmg/11.1.1
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- Article
Transduction of wild-type merlin into human schwannomacells decreases schwannoma cell growth and induces apoptosis.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 69, doi. 10.1093/hmg/11.1.69
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Chromosome-wide assessment of replication timingfor human chromosomes 11q and 21q: disease-related genes in timing-switchregions.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 13, doi. 10.1093/hmg/11.1.13
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- Article
Acute regression of advanced and retardation ofearly aortic atheroma in immunocompetent apolipoprotein-E (apoE)deficient mice by administration of a second generation [E1–,E3–, polymerase–] adenovirusvector expressing human apoE.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 43, doi. 10.1093/hmg/11.1.43
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- Article
Specific interaction of Smn, the spinal muscular atrophydetermining gene product, with hnRNP-R and gry-rbp/hnRNP-Q:a role for Smn in RNA processing in motor axons?
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 93, doi. 10.1093/hmg/11.1.93
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- Article
Epigenetic analysis of the Dlk1–Gtl2 imprinteddomain on mouse chromosome 12: implications for imprinting controlfrom comparison with Igf2–H19.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 77, doi. 10.1093/hmg/11.1.77
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- Article
The molecular basis of dichromatic color visionin males with multiple red and green visual pigment genes.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 23, doi. 10.1093/hmg/11.1.23
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- Article
Mutations in HPRP3, a third memberofpre-mRNA splicing factor genes, implicated inautosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 87, doi. 10.1093/hmg/11.1.87
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- Article