Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rowena Rubim Silva do Couto"'
Autor:
Francyne Kubaski, Carolina Fischinger Moura de Souza, Cátia Eufrazino Gondim, Aline Nemetz Bochernitsan, Rowena Rubim Silva do Couto, Paula Frassinetti Vasconcelos de Medeiros, Ana Carolina Brusius-Facchin, Simone Silva dos Santos Lopes, Sandra Leistner-Segal, Roberto Giugliani
Publikováno v:
Meta Gene. 16:77-84
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A syndrome) is an autosomal recessive disorder caused by mutations in the gene that encodes the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), resulting in enzyme deficiency and non- deg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59934114ff4370a545f27220929d267a
https://doi.org/10.1016/j.mgene.2018.01.008
https://doi.org/10.1016/j.mgene.2018.01.008
Autor:
Selia Heck, Sandra Leistner-Segal, Antônio Purificação, Graziella Rodrigues, Tatiana Amorim, Laura Bannach Jardim, Roberto Giugliani, Alice Tagliani-Ribeiro, Lavinia Schuler-Faccini, Angelina Xavier Acosta, Francyne Kubaski, Maira Graeff Burin, Augusto César Cardoso-dos-Santos, Ana Carolina Brusius-Facchin, Ursula Matte, Aline Nemetz Bochernitsan, Marcelo Zagonel de Oliveira, Fernanda Bender, Rowena Rubim Silva do Couto, Maria Luiza Saraiva-Pereira, Mariluce Riegel, Vanusa Dresch
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 312-320, Published: 11 APR 2019
Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 312-320, Published: 11 APR 2019
Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological process
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::039f4e445055e97b97bbe9267af4d6c9
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012101&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012101&lng=en&tlng=en