Literature DB >> 8566966

HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family.

M N Papadakis1, G P Patrinos, O Drakoulakou, A Loutradi-Anagnostou.   

Abstract

A T-->C substitution at position 402 of the G gamma globin gene results in an isoleucine to threonine substitution at codon 75 of the G gamma globin chain and the formation of HbF-Lesvos [alpha2 G gamma2 75 (E19) Ile-->Thr].

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Year:  1996        PMID： 8566966     DOI： 10.1007/bf02265278

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

2.  Reversed-phase high-performance liquid chromatography of human haemoglobin chains.

Authors:  L Leone; M Monteleone; V Gabutti; C Amione
Journal:  J Chromatogr       Date:  1985-03-15

3.  Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes.

Authors:  M Poncz; D Solowiejczyk; B Harpel; Y Mory; E Schwartz; S Surrey
Journal:  Hemoglobin       Date:  1982       Impact factor: 0.849

4.  Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

Authors:  W A Schroeder; T H Huisman; G D Efremov; J R Shelton; J B Shelton; R Phillips; A Reese; M Gravely; J M Harrison; H Lam
Journal:  J Clin Invest       Date:  1979-02       Impact factor: 14.808

5.  Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

Authors:  J L Slightom; A E Blechl; O Smithies
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

6.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
  6 in total
  2 in total

1.  Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Authors:  Belinda Giardine; Joseph Borg; Douglas R Higgs; Kenneth R Peterson; Sjaak Philipsen; Donna Maglott; Belinda K Singleton; David J Anstee; A Nazli Basak; Barnaby Clark; Flavia C Costa; Paula Faustino; Halyna Fedosyuk; Alex E Felice; Alain Francina; Renzo Galanello; Monica V E Gallivan; Marianthi Georgitsi; Richard J Gibbons; Piero C Giordano; Cornelis L Harteveld; James D Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger-Synodinos; Ray Tully; Takahito Wada; John S Waye; Claudia Wiemann; Branka Zukic; David H K Chui; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nat Genet       Date:  2011-03-20       Impact factor: 38.330

2.  Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Authors:  Kamran Moradkhani; Claude Préhu; John Old; Shirley Henderson; Vera Balamitsa; Hong-Yuan Luo; Man-Chiu Poon; David H K Chui; Henri Wajcman; George P Patrinos
Journal:  Ann Hematol       Date:  2008-10-16       Impact factor: 3.673
  2 in total

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