Literature DB >> 4842922

The application of an automated hexosaminidase assay to genetic screening.

E Delvin, A Pottier, C R Scriver, R J Gold.   

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Year:  1974        PMID: 4842922     DOI: 10.1016/0009-8981(74)90361-1

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


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  7 in total

1.  Improved detection of beta-thalassaemia carriers by a two-test method.

Authors:  M Tammis-Hadjopoulos; R J Gold; U R Maag; J D Metrakos; C R Scriver
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

2.  Letter: Screening for Tay-Sachs disease.

Authors: 
Journal:  Can Med Assoc J       Date:  1974-11-02       Impact factor: 8.262

3.  More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Authors:  P Hechtman; F Kaplan; J Bayleran; B Boulay; E Andermann; M de Braekeleer; S Melançon; M Lambert; M Potier; R Gagné
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

4.  Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.

Authors:  J J Mitchell; A Capua; C Clow; C R Scriver
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

5.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

6.  Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

Authors:  M S Buchalter; C M Wannmacher; M Wajner
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation.

Authors:  F Kaplan; B Boulay; J Bayleran; P Hechtman
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

  7 in total

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