Literature DB >> 240178

The alpha-chain-termination mutants and their relation to the alpha-thalassaemias.

D J Weatherall, J B Clegg.   

Abstract

The structure, synthesis, genetic transmission, clinical associations and distribution of the elongated alpha-chain haemoglobin variants has been described. The data indicate that the most likely molecular basis for these common abnormal haemoglobins is a single base substitution in the alpha-chain termination codon. Because these variants are produced inefficiently they give rise to the clinical picture of alpha-thalassaemia. When these findings are taken together with recent work regarding the molecular basis for other forms of alpha-thalassaemia it is possible to build up a fairly complete picture of the molecular pathology of the alpha-thalassaemias.

Entities:  

Mesh：

Substances：

Year:  1975        PMID： 240178     DOI： 10.1098/rstb.1975.0061

Source DB:  PubMed          Journal:  Philos Trans R Soc Lond B Biol Sci        ISSN： 0962-8436            Impact factor:   6.237


  9 in total

1.  2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem.

Authors:  David Weatherall
Journal:  Am J Hum Genet       Date:  2004-03       Impact factor: 11.025

2.  Thalassemia: the long road from the bedside through the laboratory to the community.

Authors:  David Weatherall
Journal:  Nat Med       Date:  2010-10       Impact factor: 53.440

3.  Nucleotide sequence of 3' untranslated portion of human alpha globin mRNA.

Authors:  J T Wilson; J K deRiel; B G Forget; C A Marotta; S M Weissman
Journal:  Nucleic Acids Res       Date:  1977-07       Impact factor: 16.971

4.  Genetic and molecular diversity in nondeletion Hb H disease.

Authors:  D R Higgs; L Pressley; B Aldridge; J B Clegg; D J Weatherall; A Cao; M G Hadjiminas; C Kattamis; A Metaxatou-Mavromati; E A Rachmilewitz; T Sophocleous
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

5.  Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.

Authors:  S Derry; W G Wood; M Pippard; J B Clegg; D J Weatherall; S N Wickramasinghe; J Darley; S Fucharoen; P Wasi
Journal:  J Clin Invest       Date:  1984-06       Impact factor: 14.808

6.  High genetic polymorphism of hemoglobin disorders in Laos. Complex phenotypes due to associated thalassemic syndromes.

Authors:  D Sicard; Y Lieurzou; C Lapoumeroulie; D Labie
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

7.  Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Authors:  A D Sorrell; S Lee; C Stolle; J Ellenhorn; A Grix; W G Kaelin; J N Weitzel
Journal:  Clin Genet       Date:  2011-06       Impact factor: 4.438

8.  Homozygous haemoglobin Constant Spring: a need for revision of concept.

Authors:  P Pootrakul; P Winichagoon; S Fucharoen; P Pravatmuang; A Piankijagum; P Wasi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Phenotype-genotype correlation in haemoglobin H disease in childhood.

Authors:  R Galanello; M Pirastu; M A Melis; E Paglietti; P Moi; A Cao
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.