Literature DB >> 1958498

A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.

G W Hall1, I M Franklin, T Sura, S L Thein.   

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Year:  1991        PMID： 1958498     DOI： 10.1111/j.1365-2141.1991.tb04548.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  4 in total

1.  Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Authors:  E Girodon; N Ghanem; M Vidaud; J Riou; J Martin; F Galactéros; M Goossens
Journal:  Ann Hematol       Date:  1992-10       Impact factor: 3.673

Review 2.  The molecular basis of β-thalassemia.

Authors:  Swee Lay Thein
Journal:  Cold Spring Harb Perspect Med       Date:  2013-05-01       Impact factor: 6.915

3.  Investigation of mutations in the HBB gene using the 1,000 genomes database.

Authors:  Tânia Carlice-Dos-Reis; Jaime Viana; Fabiano Cordeiro Moreira; Greice de Lemos Cardoso; João Guerreiro; Sidney Santos; Ândrea Ribeiro-Dos-Santos
Journal:  PLoS One       Date:  2017-04-05       Impact factor: 3.240

4.  Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia.

Authors:  Alexandra Agapidou; Paul King; Cecilia Ng; Dimitris A Tsitsikas
Journal:  Hematol Rep       Date:  2018-01-03
  4 in total

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