The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression—Evidence from a family study-Reference-Cited by-同舟云学术

The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression—Evidence from a family study

Published:2008-11-03 Issue:S2 Volume:31 Page:405-413
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Oliveira J. P.,Ferreira S.,Reguenga C.,Carvalho F.,Månsson J.-E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-0972-0

Reference38 articles.

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2. Bishop DF, Kornreich R, Desnick RJ (1988) Structural organization of the human α-galactosidase A gene: further evidence for the absence of a 3′ untranslated region. Proc Natl Acad Sci U S A 85: 3903–3907. doi: 10.1073/pnas.85.11.3903 .

3. Brady RO, Tallman JF, Johnson WG, et al (1973) Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry’s disease. N Engl J Med 289: 9–14.

4. Davies JP, Winchester BG, Malcolm S (1993) Sequence variations in the first exon of alpha-galactosidase A. J Med Genet 30: 658–663.

5. Desnick RJ, Dean KJ, Grabowski G, Bishop DF, Sweeley CC (1979) Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic α-galactosidase A isozymes. Proc Natl Acad Sci U S A 76: 5326–5330. doi: 10.1073/pnas.76.10.5326 .

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