Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
about
Distinct modes of gene regulation by a cell-specific transcriptional activatorMutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher diseaseA mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant ABGenetic modifying factors in beta-thalassemia.Amplification of nucleic acids by polymerase chain reaction (PCR) and other methods and their applications.The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.Genetic insights into the clinical diversity of beta thalassaemia.Molecular basis of androgen resistance.Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile deviceMolecular genetics in the pathology and diagnosis of retinoblastoma.Gene defects in beta-thalassemia and their prenatal diagnosis.Engineering considerations for the application of extremophiles in biotechnology.Frequencies of common beta-thalassaemia alleles among different populations: variability in clinical severity.Applications of molecular genetics to gastrointestinal and liver diseases. I. Technical approaches.Ras genes and acute myeloid leukaemia.Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.Detection of two rare beta-thalassemia alleles found in the Tunisian population: codon 47 (+A) and codons 106/107 (+G).Molecular characterization of beta-thalassemia in Egyptians.Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.Human gene mutations affecting RNA processing and translation.Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People's Republic of China.Advances in the prenatal and molecular diagnosis of the hemoglobinopathies and thalassemias.A DNA primer/probe system for the rapid and sensitive detection of Mycobacterium tuberculosis-complex pathogens.Functional disruption of the CD28 gene transcriptional initiator in senescent T cells.Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center.Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China.The beta- and delta-thalassemia repository.The spectrum of beta-thalassaemia mutations in Sicily.Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.Clinical applications of the polymerase chain reaction.Detection of EBV DNA in the cord blood donor for a patient developing Epstein-Barr virus-associated lymphoproliferative disorder following mismatched unrelated umbilical cord blood transplantation.Mutations in haemophilia A.Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw.Is the poly A (T>C) mutation a causative factor for misdiagnosis in second trimester prenatal diagnosis of β-thalassemia by fetal blood analysis on high performance liquid chromatography?A different molecular pattern of beta-thalassemia mutations in northeast Brazil.A novel initiation codon mutation (ATG-->ATT) in a beta-thalassemia patient.Splice junction [IVS-II-1 (G-->C)] thalassemia; a new mutation detected in an Iranian patient.Molecular analyses of beta-thalassemia in Iran.Capillary electrophoresis fourier transform ion cyclotron resonance mass spectrometry with sustained off-resonance irradiation for the characterization of protein and peptide mixtures.Separation principles of cycling temperature capillary electrophoresis.
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P2860
Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
description
article publié dans la revue scientifique Nature
@fr
scientific article published in Nature
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в Nature в листопаді 1987
@uk
name
Characterization of β-thalassa ...... g of amplified single copy DNA
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Characterization of β-thalassa ...... g of amplified single copy DNA
@nl
type
label
Characterization of β-thalassa ...... g of amplified single copy DNA
@en
Characterization of β-thalassa ...... g of amplified single copy DNA
@nl
prefLabel
Characterization of β-thalassa ...... g of amplified single copy DNA
@en
Characterization of β-thalassa ...... g of amplified single copy DNA
@nl
P2093
P356
P1433
P1476
Characterization of beta-thala ...... g of amplified single copy DNA
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P2093
P2888
P304
P356
10.1038/330384A0
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P577
1987-11-01T00:00:00Z
P6179
1052961408