Literature DB >> 589795

Hereditary erythrocyte pyruvate kinase deficiency: molecular and functional studies of four mutant PK variants detected in Spain.

J Marie, J L Vives-Corrons, A Kahn, B Kernemp.   

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Year:  1977        PMID： 589795     DOI： 10.1016/0009-8981(77)90007-9

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  6 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  G6PD Vientiane: a new glucose-6-phosphate dehydrogenase variant with increased stability.

Authors:  A Kahn; M L North; D Cottreau; G Giron; J M Lang; F Oberling
Journal:  Hum Genet       Date:  1978-07-12       Impact factor: 4.132

3.  Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression.

Authors:  A Kahn; J Marie; J L Vives-Corrons; P Maigret; A Najman
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients.

Authors:  J L Vives-Corrons; J Marie; M A Pujades; A Kahn
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Molecular lesion affecting the ADP-combining site in a mutant isozyme of erythrocyte pyruvate kinase.

Authors:  D E Paglia; W N Valentine
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

6.  Human erythrocyte pyruvate kinase deficiency: the use of a kinetic study of mutant enzymes for the detection of heterozygotes.

Authors:  E D Sprengers; J Marie; A Kahn; K Punt; G E Staal
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132
  6 in total

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