Literature DB >> 2197726

Structural hemoglobin variants that produce the phenotype of thalassemia.

J G Adams1, M B Coleman.   

Abstract

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Year:  1990        PMID： 2197726

Source DB:  PubMed          Journal:  Semin Hematol        ISSN： 0037-1963            Impact factor:   3.851


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  7 in total

1.  Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.

Authors:  Shouichi Ohga; Akihiko Nomura; Hidetoshi Takada; Junko Kato; Hiroshi Ideguchi; Yukio Hattori; Masahiro Suda; Sachiyo Suita; Toshiro Hara
Journal:  Int J Hematol       Date:  2003-11       Impact factor: 2.490

2.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

3.  Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Authors:  T Shoshani; A Augarten; E Gazit; N Bashan; Y Yahav; Y Rivlin; A Tal; H Seret; L Yaar; E Kerem
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

4.  Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).

Authors:  M B Coleman; Z H Lu; C M Smith; J G Adams; A Harrell; M Plonczynski; M H Steinberg
Journal:  J Clin Invest       Date:  1995-02       Impact factor: 14.808

5.  Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

Authors:  J S Lee; M Anvret
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

Review 6.  Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.

Authors:  Mohamad H Qari; Yasser Wali; Muneer H Albagshi; Mohammad Alshahrani; Azzah Alzahrani; Ibrahim A Alhijji; Abdulkareem Almomen; Abdullah Aljefri; Hussain H Al Saeed; Shaker Abdullah; Ahmad Al Rustumani; Khoutir Mahour; Shaker A Mousa
Journal:  Orphanet J Rare Dis       Date:  2013-09-17       Impact factor: 4.123

7.  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
  7 in total

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