Literature DB >> 2349947

Polymerase chain reaction-generated heteroduplexes from Ashkenazi Tay-Sachs carriers with an insertion mutation can be detected on agarose gels.

S Shore, R Myerowitz.   

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Year:  1990        PMID： 2349947      PMCID： PMC1683743     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

1.  Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease.

Authors:  B L Triggs-Raine; R A Gravel
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

2.  The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Authors:  R Myerowitz; F C Costigan
Journal:  J Biol Chem       Date:  1988-12-15       Impact factor: 5.157
  2 in total
  3 in total

1.  Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

Authors:  E E Grebner; J Tomczak
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

2.  A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to beta-thalassemia.

Authors:  S P Cai; B Eng; Y W Kan; D H Chui
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

3.  A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.

Authors:  E H Mules; C E Dowling; M B Petersen; H H Kazazian; G H Thomas
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025
  3 in total

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