Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ana Raquel Robles"'
Autor:
Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t
Externí odkaz:
https://doaj.org/article/5ddb85e2ab024e2882a3db291e0ae0d1
Autor:
Ana Teresa Vide, Olga Azevedo, Maria José Guimarães, Maria Antónia Costa, Damião Cunha, Miguel Gago, Gonçalo Castelo Branco, Nuno Sousa, Ana Raquel Robles, Ana Salgado, Olga Pereira, Sónia Simões, Gabriel Miltenberger-Miltenyi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf80ae45ef9c1b45c970ee1690cee12
http://www.sciencedirect.com/science/article/pii/S2214426919302113
http://www.sciencedirect.com/science/article/pii/S2214426919302113