Literature DB >> 8198136

Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant.

M B Coulter-Mackie.   

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Year:  1994        PMID： 8198136      PMCID： PMC1918204     

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


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  13 in total

1.  A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.

Authors:  P J Ainsworth; M B Coulter-Mackie
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

2.  Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant.

Authors:  P J Ainsworth; L C Surh; M B Coulter-Mackie
Journal:  Nucleic Acids Res       Date:  1991-01-25       Impact factor: 16.971

3.  GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Authors:  A Tanaka; K Ohno; K Sandhoff; I Maire; E H Kolodny; A Brown; K Suzuki
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

4.  Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

Authors:  E C Landels; P M Green; I H Ellis; A H Fensom; M M Kaback; J Lim-Steele; K Zeiger; N Levy; M Bobrow
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

Authors:  B R Akerman; J Zielenski; B L Triggs-Raine; E M Prence; M R Natowicz; J S Lim-Steele; M M Kaback; E H Mules; G H Thomas; J T Clarke
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

6.  Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.

Authors:  E H Mules; S Hayflick; C E Dowling; T E Kelly; B R Akerman; R A Gravel; G H Thomas
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

7.  A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

Authors:  M Fernandes; F Kaplan; M Natowicz; E Prence; E Kolodny; M Kaback; P Hechtman
Journal:  Hum Mol Genet       Date:  1992-12       Impact factor: 6.150

8.  The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

Authors:  G A McDowell; E H Mules; P Fabacher; E Shapira; M G Blitzer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

9.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

10.  Tay-Sachs disease: B1 variant.

Authors:  B A Gordon; K E Gordon; G G Hinton; W Cadera; V Feleki; J Bayleran; P Hechtman
Journal:  Pediatr Neurol       Date:  1988 Jan-Feb       Impact factor: 3.372
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  1 in total

1.  The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.

Authors:  Y Hou; G Vavougios; A Hinek; K K Wu; P Hechtman; F Kaplan; D J Mahuran
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025
  1 in total

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