Works matching Biochemical mutations
Results: 723
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
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- Experimental Biology & Medicine, 2017, v. 242, n. 12, p. 1271, doi. 10.1177/1535370217710918
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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1552, doi. 10.1093/hmg/ddac309
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- Article
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12184, doi. 10.3390/ijms222212184
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- Article
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1431, doi. 10.1093/hmg/10.13.1431
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Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1431
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Biochemical and structural analysis of missense mutations in N -acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1283
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GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1120153
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Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 460, doi. 10.1007/s10038-008-0271-5
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NS5A mutations predict biochemical but not virological response to interferon-α treatment of sporadic hepatitis C virus infection in European patients.
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- Journal of Viral Hepatitis, 2001, v. 8, n. 4, p. 243, doi. 10.1046/j.1365-2893.2001.00294.x
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- Article
Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques.
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- Hemoglobin, 2008, v. 32, n. 4, p. 411, doi. 10.1080/03630260802173791
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Some New and Interesting Biochemical Mutations Obtained in Ophiostoma by Selective Enrichment Technique.
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- Physiologia Plantarum, 1952, v. 5, n. 1, p. 130, doi. 10.1111/j.1399-3054.1952.tb08236.x
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Structural and biochemical insights into the V/I505T mutation found in the EIAV gp45 vaccine strain
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- Retrovirology, 2014, v. 11, n. 1, p. 26, doi. 10.1186/1742-4690-11-26
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Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0204-z
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Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 64, doi. 10.1186/s12881-015-0204-z
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- Article
Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.
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- Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226
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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
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- Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099
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Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.
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- Human Mutation, 2011, v. 32, n. 4, p. 415, doi. 10.1002/humu.21465
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Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
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- Human Mutation, 2011, v. 32, n. 2, p. 191, doi. 10.1002/humu.21405
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Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
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- Human Mutation, 2011, v. 32, n. 1, p. 33, doi. 10.1002/humu.21377
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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
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- Human Mutation, 2008, v. 29, n. 4, p. 522, doi. 10.1002/humu.20682
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Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.
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- Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329
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Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
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- Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223
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Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
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- Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C
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Biochemical Mutations in the Crucifer Arabidopsis thaliana (L.) Heynh.
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- Nature, 1955, v. 176, n. 4475, p. 260, doi. 10.1038/176260b0
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A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000450947
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Clinical Features of a New Acid-Labile Subunit (IGFALS) Heterozygous Mutation: Anthropometric and Biochemical Characterization and Response to Growth Hormone Administration.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 67, doi. 10.1159/000355017
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Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia.
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- NeuroMolecular Medicine, 2006, v. 8, n. 3, p. 361, doi. 10.1385/NMM:8:3:361
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Molecular and biochemical characterization of an induced mutation conferring imidazolinone resistance in sunflower.
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- Theoretical & Applied Genetics, 2008, v. 118, n. 1, p. 105, doi. 10.1007/s00122-008-0880-6
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Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer–Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3369, doi. 10.3390/ijms24043369
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Structural and biochemical consequences of pyridoxine‐dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.
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- FEBS Journal, 2020, v. 287, n. 1, p. 173, doi. 10.1111/febs.14997
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Parkinsonism due to A53E α-synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features.
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- 2018
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- journal article
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
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- Nucleic Acids Research, 2011, v. 39, n. 21, p. 9072, doi. 10.1093/nar/gkr618
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Clinical and biochemical characterization of four patients with mutations in ECHS1.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
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Clinical and biochemical characterization of four patients with mutations in ECHS1
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
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Clinical and biochemical characterization of four patients with mutations in ECHS1.
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- 2015
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- journal article
Biochemical characterization of naturally occurring mutations in SARS‐CoV‐2 RNA‐dependent RNA polymerase.
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- Protein Science: A Publication of the Protein Society, 2024, v. 33, n. 9, p. 1, doi. 10.1002/pro.5103
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BIOCHEMICAL ANALYSIS OF TREM2 DISEASE MUTATIONS.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1149, doi. 10.1016/j.jalz.2016.07.046
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Identification and biochemical characterization of the novel mutation m. 8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
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- Genes, Brain & Behavior, 2013, v. 12, n. 8, p. 812, doi. 10.1111/gbb.12089
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Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.
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- Biomedicines, 2024, v. 12, n. 5, p. 929, doi. 10.3390/biomedicines12050929
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DEVELOPMENTAL AND BIOCHEMICAL EFFECTS OF THE AGROPYROIDES MUTATION IN BARLEY.
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- Genetics, 1964, v. 50, n. 1, p. 65
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SOME BIOCHEMICAL FACTORS IN X-RAY-INDUCED MUTATION IN BACTERIA.
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- Genetics, 1961, v. 46, n. 6, p. 683
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MUTATIONS DURING THE GROWTH OF BIOCHEMICAL MUTANTS OF ESCHERICHIA COLI.
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- Genetics, 1949, v. 34, n. 1, p. 72
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An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
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- 1998
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- journal article
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
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- BMC Neurology, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2377-11-4
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Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
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- Journal of Muscle Research & Cell Motility, 2014, v. 35, n. 2, p. 161, doi. 10.1007/s10974-014-9382-0
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SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease.
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- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02153-2
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Association between Alzheimer's disease, MAPT gene mutation and some biochemical biomarkers.
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- Nucleosides, Nucleotides & Nucleic Acids, 2024, v. 43, n. 10, p. 1139, doi. 10.1080/15257770.2024.2313573
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An Intragenic Suppressor of a Calmodulin Mutation in Paramecium: Genetic and Biochemical Characterization.
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- Genetics, 1991, v. 129, n. 3, p. 717
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Color Mutations Alter the Biochemical Composition in the San Marzano Tomato Fruit.
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- Metabolites (2218-1989), 2020, v. 10, n. 3, p. 110, doi. 10.3390/metabo10030110
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Biochemical characterization of four novel mutations in the thyroid hormone receptor β gene in patients with resistance to thyroid hormone.
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- Scandinavian Journal of Clinical & Laboratory Investigation, 2008, v. 68, n. 7, p. 563, doi. 10.1080/00365510701884592
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