Literature DB >> 8733893

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

N Tayebi1, J Herman, E I Ginns, E Sidransky.   

Abstract

A patient with type 3 Gaucher disease is described with a novel genotype, D399N/R463C, established by DNA sequencing. This patient was previously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neuronopathic forms of Gaucher disease and has important implications for genetic counseling.

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Year:  1996        PMID： 8733893     DOI： 10.1006/bmme.1996.0021

Source DB:  PubMed          Journal:  Biochem Mol Med        ISSN： 1077-3150


  2 in total

1.  Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Authors:  Shahzeb Hassan; Grisel Lopez; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2018-06-28       Impact factor: 4.797

2.  Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

Authors:  Nevenka Ridova; Sanja Trajkova; Biljana Chonevska; Zlate Stojanoski; Martin Ivanovski; Marija Popova-Labachevska; Simona Stojanovska-Jakimovska; Venko Filipche; Aspazija Sofijanova; Irina Panovska-Stavridis
Journal:  Mol Genet Metab Rep       Date:  2022-07-08
  2 in total

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