Literature DB >> 8328470

Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

J Tomczak, C Boogen, E E Grebner.   

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Year:  1993        PMID： 8328470      PMCID： PMC1682345     

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


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  4 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.  Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

Authors:  B L Triggs-Raine; A S Feigenbaum; M Natowicz; M A Skomorowski; S M Schuster; J T Clarke; D J Mahuran; E H Kolodny; R A Gravel
Journal:  N Engl J Med       Date:  1990-07-05       Impact factor: 91.245

3.  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Authors:  B L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; B R Akerman; M R Natowicz; E E Grebner; R Navon; J P Welch
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

4.  Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Authors:  B L Triggs-Raine; B R Akerman; J T Clarke; R A Gravel
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025
  4 in total
  5 in total

Review 1.  "Pseudodeficiencies" of lysosomal hydrolases.

Authors:  G H Thomas
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

2.  Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Authors:  M van Bael; M R Natowicz; J Tomczak; E E Grebner; E M Prence
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Authors:  B Triggs-Raine; M Richard; N Wasel; E M Prence; M R Natowicz
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

4.  CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.

Authors:  N Rave-Harel; I Madgar; R Goshen; M Nissim-Rafinia; A Ziadni; A Rahat; O Chiba; Y M Kalman; C Brautbar; D Levinson
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

5.  A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Authors:  Z Cao; M R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; B L Triggs-Raine
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025
  5 in total

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