Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
about
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachDevelopments in FINDbase worldwide database for clinically relevant genomic variation allele frequenciesFINDbase: a worldwide database for genetic variation allele frequencies updatedImprovements to GALA and dbERGE II: databases featuring genomic sequence alignment, annotation and experimental resultsMalarial pathocoenosis: beneficial and deleterious interactions between malaria and other human diseasesOnline biomedical resources for malaria-related red cell disordersMicroattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainα-thalassaemiaUpdates of the HbVar database of human hemoglobin variants and thalassemia mutations.A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].Cataloging coding sequence variations in human genome databasesSimple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].Primate malarias: Diversity, distribution and insights for zoonotic Plasmodium.Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.IthaGenes: an interactive database for haemoglobin variations and epidemiologyScreening for beta thalassaemiaIntegration of modern genetic knowledge and technology into public health in India.Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised conditionMolecular Diagnostics of β-Thalassemia.Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method.Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme moleculeEfficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extensionSuRFing the genomics wave: an R package for prioritising SNPs by functionalityHbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association.A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors.Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Induction of human fetal hemoglobin via the NRF2 antioxidant response signaling pathwayHemoglobin F level in different hemoglobin variantsA new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C].α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→ProCombination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq.FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemiaIn-Silico Computing of the Most Deleterious nsSNPs in HBA1 GeneComparative effects of three iron chelation therapies on the quality of life of greek patients with homozygous transfusion-dependent Beta-thalassemia.Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.Interaction of haptoglobin with hemoglobin octamers based on the mutation αAsn78Cys or βGly83Cys.Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants
P2860
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P2860
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Improvements in the HbVar data ...... and sequence variation studies
@ast
Improvements in the HbVar data ...... and sequence variation studies
@en
Improvements in the HbVar data ...... and sequence variation studies
@nl
type
label
Improvements in the HbVar data ...... and sequence variation studies
@ast
Improvements in the HbVar data ...... and sequence variation studies
@en
Improvements in the HbVar data ...... and sequence variation studies
@nl
prefLabel
Improvements in the HbVar data ...... and sequence variation studies
@ast
Improvements in the HbVar data ...... and sequence variation studies
@en
Improvements in the HbVar data ...... and sequence variation studies
@nl
P2093
P2860
P356
P1476
Improvements in the HbVar data ...... and sequence variation studies
@en
P2093
Belinda Giardine
Cathy Riemer
David H K Chui
George P Patrinos
Henri Wajcman
Nicholas P Anagnou
P2860
P304
P356
10.1093/NAR/GKH006
P407
P433
Database issue
P577
2004-01-01T00:00:00Z