HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. - Wikidata - wikimedia - TriplyDB

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

http://www.wikidata.org/entity/Q44804715

about

Population genetics of malaria resistance in humans Beta-thalassemia Ineffective erythropoiesis and thalassemias An examination of the OMIM database for associating mutation to a consensus reference sequence Online biomedical resources for malaria-related red cell disorders TRIM21 is an IgG receptor that is structurally, thermodynamically, and kinetically conserved Integrating diverse databases into an unified analysis framework: a Galaxy approach Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain A general framework for estimating the relative pathogenicity of human genetic variants Updates 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 programmes Future alternative therapies for β-thalassemia.IthaGenes: an interactive database for haemoglobin variations and epidemiology A 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 oxide A functional element necessary for fetal hemoglobin silencing Tetra-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 anemia Ten 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 variants A 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

Q21032506-212FDA79-9973-45C5-9BC4-87FA74C6C04D Q21202886-D7ABD52F-770B-4990-8ED6-353AF064808F Q24602905-149907E9-C6A8-4A9A-A956-BDADA91287EE Q24658619-F01FFEDC-D2ED-4E28-A36A-36BC569C64B2 Q27024694-22EA542C-0427-4A30-8490-8F195A7A23B6 Q27650357-46E0281A-934F-45C5-AF71-210F706B90CD Q28236549-732C9249-DD4D-4BA2-8D79-2061D6F83721 Q28269675-37FD5C32-6754-4225-971A-8051D8F27A46 Q29615730-458426F8-56F4-40C4-9359-B678E17E5BD1 Q30486431-78411C0D-6F84-444A-8F79-D6BE740263A3 Q30494825-7D310093-1DB0-42D0-BACA-6A4095C2CC10 Q33659678-8D0FB38C-0A72-4F76-89B6-910650998D1E Q33945880-3F5B44B8-D17F-4FD5-9164-0442B6585443 Q34565638-02AE4C95-65E3-4486-A356-DF958867CDA6 Q34635430-AF4FFFAC-7DCD-4C52-BC3E-05ADDB11F4DD Q35067862-2CE8817A-4595-4A41-B504-F99272484218 Q35217485-A245D151-01A7-4E9F-818A-A22A9FFAD5FF Q35474755-9B3570C5-1F8E-4B98-9AC9-EFCC89005720 Q35537110-4ABD714F-443A-47F7-A984-91EF8EAB1165 Q35644835-EF92B25A-25C3-4628-89B5-10A787932309 Q35664920-ACA628B7-DB05-498D-B7DF-BE21ED279646 Q35794401-8804F4D1-D777-477C-93A6-10BE2E3EB142 Q36057061-61C83F4C-AB94-46B9-AE99-4D1D8D71AE4C Q36338189-311740EA-19C9-4CF8-8DED-853948CB4C35 Q36969792-5CD70269-1EFD-41E1-8132-96AF313A632D Q37213375-3963EBE5-9839-4D6F-8085-5551F566FA9A Q37231376-27D53C76-35CD-43C7-BAAA-3C0C6D8A4AE7 Q37320318-0432403C-CB42-4EBC-9CA8-7A6D31C782AD Q37560102-A55AF260-4273-4A5B-8905-F699B1A8ABB3 Q37792339-F1294FFC-6D63-4616-84D8-D8DE66191C91 Q37854468-465F4419-1EF5-4635-A9F9-505995A9B45E Q38065340-9CC5361F-E4BF-4CBC-ACD0-7EC7D5EAF820 Q38110574-44CFAC27-57A1-4D1B-99CE-2E8819F9E3DD Q38113565-C618FC4A-446C-4356-A48C-1EEA0FF7DDCF Q38128344-CF2AE8F9-6BF4-4141-88EF-3527CA51D2DB Q38186032-293F3BD8-1CA8-429B-A820-FD7CE055ABB1 Q38293900-BEAE8CFD-E480-4523-A93C-CC0147C6A615 Q38424000-F5AFF312-D66E-4DC3-B680-5FFA76FB8AF7 Q38751643-9765BC2A-F5A5-4C59-8B1C-CB172413C8F0 Q38774321-E15400FD-84B9-481D-B8E8-9977BB1C6DA8

P2860

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

http://www.wikidata.org/entity/Q44804715

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

P1433

Q44804715-F8D4BA92-44A9-42B4-B9F1-28564AB42AB7

P1476

Q44804715-8C573D2C-D558-4F30-9050-6879537BBCA5

P2093

Q44804715-06DBA854-8BB3-4AA7-A905-7C19E6AF26AD

Q44804715-172CF8EE-229A-4A42-A229-D73A2B717008

Q44804715-327435D2-D7BF-488C-A40C-E279C1D622AE

Q44804715-68040B62-3D14-47AC-97E5-E40EDAE49BBF

Q44804715-6B7B25D0-3D6E-4FF9-B767-5782C0F99476

Q44804715-9351F58F-D324-4695-B672-145759CBFB5D

Q44804715-A3C5CC89-4A4A-47DC-96FD-124189408A58

Q44804715-A739AC66-62DF-4E7B-ABDD-04B91D504C3A

Q44804715-C02FF498-E8F6-45DA-8D3D-1CADFFD47654

P304

Q44804715-E36677F2-CF28-40D9-9DFE-0EEF4CFF7FAD

P31

Q44804715-9E2DDE32-3987-4395-AB1F-4D6E48C56A67

P356

Q44804715-A152779A-31F0-4A00-BD2A-CAF34001DBC0

P433

Q44804715-F78AC0C8-B6BD-4C61-B852-EA45D83A80C1

P478

Q44804715-20C53C4F-F293-40E2-B5FF-2F1A0754D94A

P50

Q44804715-174FAEF7-3072-4EEE-AA3D-1B90A7C67EB6

Q44804715-7AF7EFD9-19BA-4E80-91D7-ACDB30314904

Q44804715-EEC9A145-28AF-4CE8-8EF3-9AB82A7D82E4

P577

Q44804715-F0BDEEAE-10E0-46A9-A591-E7F05759ACC9

P5875

Q44804715-3AB7CDC6-681E-4750-B8B9-8321812F8D2B

P698

Q44804715-CB059928-82DF-48C9-8770-07AE1579D439

P356

P1433

P1476

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

@en

P2093

Belinda Giardine

http://www.w3.org/2001/XMLSchema#string

Cathy Riemer

http://www.w3.org/2001/XMLSchema#string

David H K Chui

http://www.w3.org/2001/XMLSchema#string

George P Patrinos

http://www.w3.org/2001/XMLSchema#string

Henri Wajcman

http://www.w3.org/2001/XMLSchema#string

Maria Samara

http://www.w3.org/2001/XMLSchema#string

Nicholas P Anagnou

http://www.w3.org/2001/XMLSchema#string

Panagoula Kollia

http://www.w3.org/2001/XMLSchema#string

Sjozef van Baal

http://www.w3.org/2001/XMLSchema#string

P304

206

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.9479

http://www.w3.org/2001/XMLSchema#string

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

28

http://www.w3.org/2001/XMLSchema#string

P50

P577

2007-02-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6579736

http://www.w3.org/2001/XMLSchema#string

P698

17221864

http://www.w3.org/2001/XMLSchema#string