Literature DB >> 8076951

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.

R Tuteja1, N Tuteja, F Lilliu, B Bembi, R Galanello, A Cao, F E Baralle.   

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Year:  1994        PMID： 8076951     DOI： 10.1007/bf00208292

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  7 in total

1.  Polymorphisms in the human glucocerebrosidase gene.

Authors:  E Beutler; C West; T Gelbart
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

Review 2.  Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Authors:  E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1993-06-15       Impact factor: 11.205

3.  Characterization of human glucocerebrosidase from different mutant alleles.

Authors:  T Ohashi; C M Hong; S Weiler; J M Tomich; J M Aerts; J M Tager; J A Barranger
Journal:  J Biol Chem       Date:  1991-02-25       Impact factor: 5.157

4.  1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.

Authors:  R Tuteja; B Bembi; E Agosti; F E Baralle
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

5.  Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

Authors:  M Horowitz; G Tzuri; N Eyal; A Berebi; E H Kolodny; R O Brady; N W Barton; A Abrahamov; A Zimran
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.

Authors:  M E Grace; P N Graves; F I Smith; G A Grabowski
Journal:  J Biol Chem       Date:  1990-04-25       Impact factor: 5.157

7.  Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences.

Authors:  R R O'Neill; T Tokoro; C A Kozak; R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1989-07       Impact factor: 11.205
  7 in total

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