Literature DB >> 2294750

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

B L Triggs-Raine, R A Gravel.   

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Year:  1990        PMID： 2294750      PMCID： PMC1683528     

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


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  2 in total

1.  A PCR artifact: generation of heteroduplexes.

Authors:  C M Nagamine; K Chan; Y F Lau
Journal:  Am J Hum Genet       Date:  1989-08       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
  13 in total

1.  Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants.

Authors:  F Kaplan; C Clow; C R Scriver
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

2.  The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.

Authors:  A C Nicholls; J Oliver; D V Renouf; D A Heath; F M Pope
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

3.  Elimination of heteroduplex artifacts when sequencing HLA genes amplified by polymerase chain reaction (PCR).

Authors:  D L'Abbé; A Belmaaza; F Décary; P Chartrand
Journal:  Immunogenetics       Date:  1992       Impact factor: 2.846

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

Authors:  S Shore; R Myerowitz
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

5.  Heteroduplex formation in polymerase chain reaction.

Authors:  F Anglani; L Picci; C Camporese; F Zacchello
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

6.  Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

Authors:  B H Paw; P T Tieu; M M Kaback; J Lim; E F Neufeld
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

7.  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

8.  Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.

Authors:  L Drucker; R L Proia; R Navon
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

9.  A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Authors:  V Meiner; D Landsberger; N Berkman; A Reshef; P Segal; H C Seftel; D R van der Westhuyzen; M S Jeenah; G A Coetzee; E Leitersdorf
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

10.  The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

Authors:  P Hechtman; B Boulay; M De Braekeleer; E Andermann; S Melançon; J Larochelle; C Prevost; F Kaplan
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132
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