Literature DB >> 1087855

Mapping of the gene for glutathione reductase on chromosome 8.

A de la Chapelle, A Icen, P Aula, J Leisti, C Turleau, J de Grouchy.   

Abstract

Red cell glutathione reductase (E-GSR) activity in 3 patients with mos46,XY/47,XY,+8 was higher than the mean value in controls, confirming the previous assignment of the E-GSR locus to chromosome 8. In a infant with a terminal deletion of the short arm of chromosome 8, 46,XX,del(8)(:p21 leads to qter), E-GSR activity was markedly lower than in infant controls. The authors suggest that the E-GSR locus is in the region 8p21 leads to pter.

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Year:  1976        PMID: 1087855

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  10 in total

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Review 2.  Mouse chromosome 8.

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3.  Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).

Authors:  B Dallapiccola; L Santoro; S Trabace; M Ramenghi; P Mastroiacovo; E Gandini
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

Review 4.  Human chromosome 8.

Authors:  S Wood
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5.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin.

Authors:  R A White; C S Birkenmeier; S E Lux; J E Barker
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

7.  Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility.

Authors:  A C Chandley; T B Hargreave; J M Fletcher; M Soos; D Axworthy; W H Price
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  The 8p- syndrome.

Authors:  J A Reiss; P M Brenes; J Chamberlin; R E Magenis; E W Lovrien
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

9.  Refined mapping of the gene for glutathione reductase on human chromosome 8.

Authors:  W Gutensohn; A Rodewald; B Haas; P Schulz; H Cleve
Journal:  Hum Genet       Date:  1978-08-31       Impact factor: 4.132

10.  Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases.

Authors:  Bharti Vyas; Ratul Bhowmik; Mymoona Akhter; Farhan Jalees Ahmad
Journal:  Sci Rep       Date:  2022-03-31       Impact factor: 4.379

  10 in total

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