HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
about
Population genetics of malaria resistance in humansBeta-thalassemiaIneffective erythropoiesis and thalassemiasAn examination of the OMIM database for associating mutation to a consensus reference sequenceOnline biomedical resources for malaria-related red cell disordersTRIM21 is an IgG receptor that is structurally, thermodynamically, and kinetically conservedIntegrating diverse databases into an unified analysis framework: a Galaxy approachMicroattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainA general framework for estimating the relative pathogenicity of human genetic variantsUpdates of the HbVar database of human hemoglobin variants and thalassemia mutations.Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmesFuture alternative therapies for β-thalassemia.IthaGenes: an interactive database for haemoglobin variations and epidemiologyA combined top-down and bottom-up MS approach for the characterization of hemoglobin variants in Rhesus monkeys.Persistence of the common Hartnup disease D173N allele in populations of European origin.Structural and functional studies indicating altered redox properties of hemoglobin E: implications for production of bioactive nitric oxideA functional element necessary for fetal hemoglobin silencingTetra-Primer ARMS PCR Optimization for Detection of IVS-II-I (G-A) and FSC 8/9 InsG Mutations in β-Thalassemia Major Patients in Isfahan Population.FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.Hemoglobin βCys93 is essential for cardiovascular function and integrated response to hypoxia.The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemiaTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia.EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.Hemoglobin research and the origins of molecular medicine.Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variantsA Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Regulation of iron absorption in hemoglobinopathies.A study of leptin serum concentrations in patients with major Beta-thalassemia.Delivery of nucleic acid therapeutics by genetically engineered hematopoietic stem cells.Gene therapy in thalassemia and hemoglobinopathies.Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls.State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies.Detection and impact of rare regulatory variants in human disease.Hemoglobin variant analysis of whole blood and dried blood spots by MS.Evaluation of Novel Fetal Hemoglobin Inducer Drugs in Treatment of β-Hemoglobinopathy Disorders.β-globin genes: mutation hot-spots in the global thalassemia belt.A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.LSDBs and How They Have Evolved.An international registry of survivors with Hb Bart's hydrops fetalis syndrome
P2860
Q21032506-212FDA79-9973-45C5-9BC4-87FA74C6C04DQ21202886-D7ABD52F-770B-4990-8ED6-353AF064808FQ24602905-149907E9-C6A8-4A9A-A956-BDADA91287EEQ24658619-F01FFEDC-D2ED-4E28-A36A-36BC569C64B2Q27024694-22EA542C-0427-4A30-8490-8F195A7A23B6Q27650357-46E0281A-934F-45C5-AF71-210F706B90CDQ28236549-732C9249-DD4D-4BA2-8D79-2061D6F83721Q28269675-37FD5C32-6754-4225-971A-8051D8F27A46Q29615730-458426F8-56F4-40C4-9359-B678E17E5BD1Q30486431-78411C0D-6F84-444A-8F79-D6BE740263A3Q30494825-7D310093-1DB0-42D0-BACA-6A4095C2CC10Q33659678-8D0FB38C-0A72-4F76-89B6-910650998D1EQ33945880-3F5B44B8-D17F-4FD5-9164-0442B6585443Q34565638-02AE4C95-65E3-4486-A356-DF958867CDA6Q34635430-AF4FFFAC-7DCD-4C52-BC3E-05ADDB11F4DDQ35067862-2CE8817A-4595-4A41-B504-F99272484218Q35217485-A245D151-01A7-4E9F-818A-A22A9FFAD5FFQ35474755-9B3570C5-1F8E-4B98-9AC9-EFCC89005720Q35537110-4ABD714F-443A-47F7-A984-91EF8EAB1165Q35644835-EF92B25A-25C3-4628-89B5-10A787932309Q35664920-ACA628B7-DB05-498D-B7DF-BE21ED279646Q35794401-8804F4D1-D777-477C-93A6-10BE2E3EB142Q36057061-61C83F4C-AB94-46B9-AE99-4D1D8D71AE4CQ36338189-311740EA-19C9-4CF8-8DED-853948CB4C35Q36969792-5CD70269-1EFD-41E1-8132-96AF313A632DQ37213375-3963EBE5-9839-4D6F-8085-5551F566FA9AQ37231376-27D53C76-35CD-43C7-BAAA-3C0C6D8A4AE7Q37320318-0432403C-CB42-4EBC-9CA8-7A6D31C782ADQ37560102-A55AF260-4273-4A5B-8905-F699B1A8ABB3Q37792339-F1294FFC-6D63-4616-84D8-D8DE66191C91Q37854468-465F4419-1EF5-4635-A9F9-505995A9B45EQ38065340-9CC5361F-E4BF-4CBC-ACD0-7EC7D5EAF820Q38110574-44CFAC27-57A1-4D1B-99CE-2E8819F9E3DDQ38113565-C618FC4A-446C-4356-A48C-1EEA0FF7DDCFQ38128344-CF2AE8F9-6BF4-4141-88EF-3527CA51D2DBQ38186032-293F3BD8-1CA8-429B-A820-FD7CE055ABB1Q38293900-BEAE8CFD-E480-4523-A93C-CC0147C6A615Q38424000-F5AFF312-D66E-4DC3-B680-5FFA76FB8AF7Q38751643-9765BC2A-F5A5-4C59-8B1C-CB172413C8F0Q38774321-E15400FD-84B9-481D-B8E8-9977BB1C6DA8
P2860
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@en
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@nl
type
label
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@en
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@nl
prefLabel
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@en
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@nl
P2093
P50
P356
P1433
P1476
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
@en
P2093
Belinda Giardine
Cathy Riemer
David H K Chui
George P Patrinos
Henri Wajcman
Maria Samara
Nicholas P Anagnou
Panagoula Kollia
Sjozef van Baal
P356
10.1002/HUMU.9479
P577
2007-02-01T00:00:00Z