Identification of mutations in Colombian patients affected with Fabry disease-Reference-Cited by-同舟云学术

Identification of mutations in Colombian patients affected with Fabry disease

Published:2015-12 Issue:2 Volume:574 Page:325-329
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Uribe Alfredo,Mateus Heidi Eliana,Prieto Juan Carlos,Palacios Maria Fernanda,Ospina Sandra Yaneth,Pasqualim Gabriela,da Silveira Matte Ursula,Giugliani Roberto

Funder

Universidad del Rosario

Pontificia Universidad Javeriana

Universidad de los Andes and by Genzyme Corporation Colombia

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference45 articles.

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2. Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study;Andreotti;Orphanet J. Rare Dis.,2010

3. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype;Ashley;J. Hum. Genet.,2001

4. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA;Barker;Cell,1984

5. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene;Blanch;Hum. Mutat.,1996

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