Found: 41
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Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU32>3.0.CO;2-B
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Use of molecular variation in the NCBI dbSNP database.
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- Human Mutation, 2000, v. 15, n. 1, p. 68, doi. 10.1002/(SICI)1098-1004(200001)15:1<68::AID-HUMU14>3.0.CO;2-6
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Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative.
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- Human Mutation, 2000, v. 15, n. 1, p. 22, doi. 10.1002/(SICI)1098-1004(200001)15:1<22::AID-HUMU7>3.0.CO;2-Q
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Characterization of three new VNTR alleles in the promoter region of the TPMT gene.
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- Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X
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A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.
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- Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU31>3.0.CO;2-E
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A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene.
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- Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU39>3.0.CO;2-L
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Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue.
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- Human Mutation, 2000, v. 15, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T
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Nine independent F9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline.
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- Human Mutation, 2000, v. 15, n. 1, p. 116, doi. 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU25>3.0.CO;2-N
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Somatic mosaicism in von Hippel-Lindau disease.
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- Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7
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- Article
PAHdb: A locus-specific knowledgebase.
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- Human Mutation, 2000, v. 15, n. 1, p. 99, doi. 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P
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MEFV mutations in Turkish patients suffering from familial Mediterranean fever.
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- Human Mutation, 2000, v. 15, n. 1, p. 118, doi. 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5
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UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases.
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- Human Mutation, 2000, v. 15, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
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Future vision of the GDB Human Genome Database.
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- Human Mutation, 2000, v. 15, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(200001)15:1<62::AID-HUMU13>3.0.CO;2-R
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Eye disorder database 'KMeyeDB'.
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- Human Mutation, 2000, v. 15, n. 1, p. 95, doi. 10.1002/(SICI)1098-1004(200001)15:1<95::AID-HUMU17>3.0.CO;2-3
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A new germline mutation, R600Q, within the coding region of RET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation?
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- Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU41>3.0.CO;2-7
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Overview: Progress toward a new millennium of medical genetics.
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- Human Mutation, 2000, v. 15, n. 1, p. 2, doi. 10.1002/(SICI)1098-1004(200001)15:1<2::AID-HUMU2>3.0.CO;2-Y
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Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families.
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- Human Mutation, 2000, v. 15, n. 1, p. 116, doi. 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q
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Two RFLPS ( AciI; c954C/T and FokI; c1023 FokIT/C) within the coding region of the gene for human Fe65L2, a protein which interacts with Alzheimer beta-amyloid precursor protein.
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- Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU35>3.0.CO;2-#
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Quality control in the discovery, reporting, and recording of genomic variation.
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- Human Mutation, 2000, v. 15, n. 1, p. 16, doi. 10.1002/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S
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Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
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- Human Mutation, 2000, v. 15, n. 1, p. 118, doi. 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8
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Online Mendelian Inheritance In Man (OMIM).
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- Human Mutation, 2000, v. 15, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G
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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
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- Human Mutation, 2000, v. 15, n. 1, p. 115, doi. 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W
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A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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- Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU34>3.0.CO;2-2
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The m2 and m4 polymorphisms in CYP1A1 by NcoI digest-Revision of detection method.
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- Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU30>3.0.CO;2-H
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Acknowledgments.
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- Human Mutation, 2000, v. 15, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(200001)15:1<1::AID-HUMU1>3.0.CO;2-1
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Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress.
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- Human Mutation, 2000, v. 15, n. 1, p. 13, doi. 10.1002/(SICI)1098-1004(200001)15:1<13::AID-HUMU5>3.0.CO;2-Y
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Mutations of the factor VIII gene in Thai hemophilia A patients.
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- Human Mutation, 2000, v. 15, n. 1, p. 117, doi. 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E
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A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 ( PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
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- Human Mutation, 2000, v. 15, n. 1, p. 115, doi. 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z
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Novel TIGR sequence alteration Val53Ala.
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- Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU38>3.0.CO;2-O
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A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country.
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- Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U
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MuStaR™ and other software for locus-specific mutation databases.
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- Human Mutation, 2000, v. 15, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(200001)15:1<76::AID-HUMU15>3.0.CO;2-8
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Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
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- Human Mutation, 2000, v. 15, n. 1, p. 117, doi. 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H
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Central mutation databases-A review.
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- Human Mutation, 2000, v. 15, n. 1, p. 36, doi. 10.1002/(SICI)1098-1004(200001)15:1<36::AID-HUMU9>3.0.CO;2-D
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Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
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- Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A
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p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis.
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- Human Mutation, 2000, v. 15, n. 1, p. 105, doi. 10.1002/(SICI)1098-1004(200001)15:1<105::AID-HUMU19>3.0.CO;2-G
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Sequence variation database project at the European Bioinformatics Institute.
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- Human Mutation, 2000, v. 15, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(200001)15:1<52::AID-HUMU11>3.0.CO;2-Y
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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion.
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- Human Mutation, 2000, v. 15, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
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A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy.
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- Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU33>3.0.CO;2-8
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Ethical guideposts for allelic variation databases.
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- Human Mutation, 2000, v. 15, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(200001)15:1<30::AID-HUMU8>3.0.CO;2-M
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Human Gene Mutation Database-A biomedical information and research resource.
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- Human Mutation, 2000, v. 15, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T
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Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans.
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- Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4
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