Literature DB >> 8834244

Novel trinucleotide deletion in Fabry's disease.

M A Cariolou1, M Christodoulides, P Manoli, A Kokkofitou, D Tsambaos.   

Abstract

We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.

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Year:  1996        PMID： 8834244     DOI： 10.1007/bf02267068

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


  14 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  Nucleotide sequence of the human alpha-galactosidase A gene.

Authors:  R Kornreich; R J Desnick; D F Bishop
Journal:  Nucleic Acids Res       Date:  1989-04-25       Impact factor: 16.971

3.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

4.  Mutation analysis in patients with the typical form of Anderson-Fabry disease.

Authors:  J P Davies; B G Winchester; S Malcolm
Journal:  Hum Mol Genet       Date:  1993-07       Impact factor: 6.150

5.  Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.

Authors:  R Kornreich; R J Desnick
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

6.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

7.  Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Authors:  H S Bernstein; D F Bishop; K H Astrin; R Kornreich; C M Eng; H Sakuraba; R J Desnick
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

8.  Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Authors:  C M Eng; L A Resnick-Silverman; D J Niehaus; K H Astrin; R J Desnick
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

9.  Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

Authors:  D F Bishop; R Kornreich; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

10.  Fabry's disease: alpha-galactosidase deficiency.

Authors:  J A Kint
Journal:  Science       Date:  1970-02-27       Impact factor: 47.728
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  1 in total

1.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299
  1 in total

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