Zobrazeno 1 - 10
of 113
pro vyhledávání: '"S. L. Thein"'
Publikováno v:
Blood. 92:3428-3435
A common β-thalassemia mutation in Asian populations is the C → T substitution at position 654 of intron 2, which leads to the activation of two cryptic splicing sites and the incorporation of 73 extra nucleotides into the mutant mRNA. Like most
Publikováno v:
Annals of the New York Academy of Sciences. 850:436-441
Autor:
David C. Rees, David J. Weatherall, John A. Duley, H.A. Simmonds, S. L. Thein, B. Wonke, John B. Clegg
Publikováno v:
Blood. 88:2761-2767
A Bangladeshi family is described in which the genes for both hemoglobin E (Hb E) and pyrimidine 5′ nucleotidase deficiency are segregating. An individual homozygous for both these conditions has a severe hemolytic anemia, whereas family members wh
Publikováno v:
Blood. 87:1170-1178
We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero thalassemia allele and a novel mutation, C-->G i
Autor:
S. L. Thein, Francisco J. Perea, V Vázquez, R Bustos, F Romero, Jamie E Craig, A R Villalobos-Arámbula, Bertha Ibarra
Publikováno v:
Hemoglobin. 20:439-442
Autor:
Chris Fisher, P. J. Ho, Andrew M. Will, S. L. Thein, David C. Rees, Jacques Rochette, E. R. Huehns
Publikováno v:
Hemoglobin. 20:103-112
We report an Asian Indian family in which two daughters have Hb Sun Prairie, a known unstable alpha 2-globin variant [codon 130, GCT--CCT; alpha 2 130(H13)Ala--Pro beta 2]. While the homozygous probands have chronic hemolysis-the same phenotype as pr
Autor:
Jan P. Vandenbroucke, R.J. Olds, H. H. Van Boven, Pieter H. Reitsma, S. L. Thein, F.R. Rosendaal, David A. Lane, Ernest Briët
Publikováno v:
Blood. 84:4209-4213
We studied the molecular basis and genetic heterogeneity of hereditary antithrombin (III) deficiency in nine Dutch families. Polymerase chain reaction (PCR) amplification and direct sequencing of all antithrombin gene exons and flanking intronic regi
Autor:
S. L. Thein, Georgina W. Hall
Publikováno v:
Blood. 83:2031-2037
We present in vivo evidence that there is no reduction in beta-mRNA accumulation in patients with nonsense codons in the terminal exon of the beta-globin gene. Using reverse transcriptase/polymerase chain reaction (RT-PCR), beta-globin cDNA was isola
Publikováno v:
Blood. 83:1673-1682
A considerable number of deletions of variable size and position that involve the beta-globin gene complex on chromosome 11 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. Spe
Autor:
P, Moss, S L, Thein
Publikováno v:
Methods in molecular medicine. 16
It is often necessary to obtain DNA sequence information following successful amplification. Although polymerase chain reaction (PCR) products may be cloned into a vector and sequenced at a later stage, it is often preferable to sequence PCR products