Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 9
Results: 28
The Preliminary Transcript Map of a Human Skeletal Muscle.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1445, doi. 10.1093/hmg/6.9.1445
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Cloning of Tabby, the Murine Homolog of the Human EDA Gene: Evidence for a Membrane-Associated Protein with a Short Collagenous Domain.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1589, doi. 10.1093/hmg/6.9.1589
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An Unusual Pattern of Mutation in the Duplicated Portion of PKD1 Is Revealed by Use of a Novel Strategy for Mutation Detection.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1473, doi. 10.1093/hmg/6.9.1473
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- Article
The SYT Protein Involved in the t(X;18) Synovial Sarcoma Translocation is a Transcriptional Activator Localised in Nuclear Bodies.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1559, doi. 10.1093/hmg/6.9.1559
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Anhidrotic Ectodermal Dysplasia (EDA) Protein Expressed in MCF-7 Cells Associates with Cell Membrane and Induces Rounding.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1581, doi. 10.1093/hmg/6.9.1581
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Human Renin Binding Protein: Complete Genomic Sequence and Association of an Intronic T/C Polymorphism with the Prorenin Level in Males.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1527, doi. 10.1093/hmg/6.9.1527
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Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1573, doi. 10.1093/hmg/6.9.1573
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Altered Metabolism of Familial Alzheimer's Disease-Linked Amyloid Precursor Protein Variants in Yeast Artificial Chromosome Transgenic Mice.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1535, doi. 10.1093/hmg/6.9.1535
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Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic Beckwith-Wiedemann Syndrome.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1543, doi. 10.1093/hmg/6.9.1543
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Human Minisatellite MS32 (D1S8) Displays Somatic But Not Germline Instability in Transgenic Mice.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1565, doi. 10.1093/hmg/6.9.1565
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Nuclear Localization of SYT, SSX and the Synovial Sarcoma-Associated SYT-SSX Fusion Proteins.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1549, doi. 10.1093/hmg/6.9.1549
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- Article
The Human COX10 Gene is Disrupted During Homologous Recombination Between the 24 kb Proximal and Distal CMT1A-REPs.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1595, doi. 10.1093/hmg/6.9.1595
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Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1499, doi. 10.1093/hmg/6.9.1499
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A Susceptibility Locus for Early-Onset Non-Insulin Dependent (Type 2) Diabetes Mellitus Maps to Chromosome 20q, Proximal to the Phosphoenolpyruvate Carboxykinase Gene.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1401, doi. 10.1093/hmg/6.9.1401
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Comparative Analysis of the Polycystic Kidney Disease 1 (PKD1) Gene Reveals an Integral Membrane Glycoprotein with Multiple Evolutionary Conserved Domains.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1483, doi. 10.1093/hmg/6.9.1483
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Characterization of a New BLM Mutation Associated with a Topoisomerase Ilα Defect in a Patient with Bloom's Syndrome.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1427, doi. 10.1093/hmg/6.9.1427
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- Article
Expression and Kinetic Characterization of Methylmalonyl-CoA Mutase from Patients with the Mut− Phenotype: Evidence for Naturally Occurring Interallelic Complementation.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1457, doi. 10.1093/hmg/6.9.1457
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Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1505, doi. 10.1093/hmg/6.9.1505
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High Expression of Naked Plasmid DNA in Muscles of Young Rodents.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1435, doi. 10.1093/hmg/6.9.1435
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Strategems in Vitro for Gene Therapies Directed to Dominant Mutations.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1415, doi. 10.1093/hmg/6.9.1415
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The Fragile X Mental Retardation Protein is Associated with Poly(A)+ mRNA in Actively Translating Polyribosomes.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1465, doi. 10.1093/hmg/6.9.1465
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Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1491, doi. 10.1093/hmg/6.9.1491
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Huntingtin-Associated Protein 1 (HAP1) Binds to a Trio-Like Polypeptide, with a rac1 Guanine Nucleotide Exchange Factor Domain.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1519, doi. 10.1093/hmg/6.9.1519
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Functional Correction of Short-Chain Acyl-CoA Dehydrogenase Deficiency in Transgenic Mice: Implications for Gene Therapy of Human Mitochondrial Enzyme Deficiencies.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1451, doi. 10.1093/hmg/6.9.1451
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Characterization of Susceptible Chiasma Configurations that Increase the Risk for Maternal Nondisjunction of Chromosome 21.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1391, doi. 10.1093/hmg/6.9.1391
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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1605, doi. 10.1093/hmg/6.9.1605
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Identification of a 14 kb Deletion Involving the Promoter Region of BRCA1 in a Breast Cancer Family.
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1513, doi. 10.1093/hmg/6.9.1513
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Mutations in the TSC2 Gene: Analysis of the Complete Coding Sequence Using the Protein Truncation Test (PTT).
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- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1409, doi. 10.1093/hmg/6.9.1409
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- Article