Literature DB >> 7070526

Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia.

M Goossens, K Y Lee, S A Liebhaber, Y W Kan.   

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Year:  1982        PMID： 7070526     DOI： 10.1038/296864a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  27 in total

Review 1.  Thalassemia: genotypes and phenotypes.

Authors:  D Loukopoulos
Journal:  Ann Hematol       Date:  1991-05       Impact factor: 3.673

Review 2.  Thalassemia: genotypes and phenotypes.

Authors:  D Loukopoulos
Journal:  Ann Hematol       Date:  1991-04       Impact factor: 3.673

3.  Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System.

Authors:  Yong-Chui Wee; Kim-Lian Tan; Kek-Heng Chua; Elizabeth George; Jin-Ai Mary Anne Tan
Journal:  Malays J Med Sci       Date:  2009-07

4.  Alpha-thalassemia haplotypes in the Algerian population.

Authors:  T Henni; F Morlé; B Lopez; P Colonna; J Godet
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

5.  The molecular basis of HbH disease in Taiwan.

Authors:  H W Peng; S H Han; T Y Chow; C H Ho; K N Ching; B N Chiang
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

6.  A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.

Authors:  Y Naritomi; Y Naito; H Nakashima; E Yokota; T Imamura
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

7.  Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

Authors:  L A Dickson; T Pihlajaniemi; S Deak; F M Pope; A Nicholls; D J Prockop; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

Review 8.  Alpha-thalassaemia.

Authors:  Cornelis L Harteveld; Douglas R Higgs
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

9.  An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

Authors:  P Moi; F E Cash; S A Liebhaber; A Cao; M Pirastu
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

10.  Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

Authors:  S A Liebhaber; M B Coleman; J G Adams; F E Cash; M H Steinberg
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808
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