Literature DB >> 2931975

Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis.

R Navon, A Adam.   

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Year:  1985        PMID： 2931975      PMCID： PMC1684676     

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


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  5 in total

1.  Hexosaminidase A deficient adults: presence of alpha chain precursor in cultured skin fibroblasts.

Authors:  A Frisch; D Baram; R Navon
Journal:  Biochem Biophys Res Commun       Date:  1984-02-29       Impact factor: 3.575

2.  Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals.

Authors:  G H Thomas; S Raghavan; E H Kolodny; A Frisch; E F Neufeld; J S O'Brien; L W Reynolds; C S Miller; J Shapiro; H H Kazazian; R H Heller
Journal:  Pediatr Res       Date:  1982-03       Impact factor: 3.756

3.  Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.

Authors:  Z Argov; R Navon
Journal:  Ann Neurol       Date:  1984-07       Impact factor: 10.422

4.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

5.  Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.

Authors:  D A Greenberg; M M Kaback
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025
  5 in total
  2 in total

1.  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

2.  Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Authors:  R Navon; E H Kolodny; H Mitsumoto; G H Thomas; R L Proia
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025
  2 in total

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