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Global distribution of the CCR5 gene 32-basepair deletion
A mutant allele of the β-chemokine receptor gene CCR5 bearing a 32-basepair (bp) deletion (denoted Δccr5) which prevents cell invasion by the primary transmitting strain of HIV-1 has recently beenExpand
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Sickle-cell disease
Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to theExpand
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Worldwide distribution of a common methylenetetrahydrofolate reductase mutation.
We are grateful to V. Chen, D. Higgs, A. Hill, J. Guerrerio, J. Old, N. Neary, J. Roux, A. Sofro, B. Sykes, D. Tumen, and R. Ward, for access to DNA samples, and to the Wellcome Trust, for support.
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The Population Genetics of Factor V Leiden (Arg506Gln)
  • D. Rees
  • Medicine
  • British journal of haematology
  • 1 December 1996
Venous thrombosis is a common multifactorial disease, known to be associated with a number of acquired and inherited factors. Until recently, identifiable genetic predispositions towards thrombosisExpand
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Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency
Abstract. Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes. TheExpand
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World distribution of factor V Leiden
We have analysed 3380 chromosomes (1690 unrelated individuals) from twenty-four populations for the presence of factor V Leiden, an important risk factor in venous thromboembolism. The alleleExpand
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FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high‐risk group
Genomic DNA from 106 cases of adult de novo acute myeloid leukaemia (AML) was screened by polymerase chain reaction (PCR) and gel electrophoresis for FLT3 internal tandem duplication (ITD) mutationsExpand
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Significant haemoglobinopathies: guidelines for screening and diagnosis
Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening programme. Newborn screening and, when necessary,Expand
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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such asExpand
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Guidelines for the management of the acute painful crisis in sickle cell disease
Severe acute pain is the commonest manifestation of sickle cell disease (SCD) requiring hospital admission in Europe and the USA. Although the pain itself is not directly lifethreatening,Expand
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