Výsledky vyhledávání - "Márcio Gambini"

Identification of novel mutations of the WFS1 gene in brazilian patients with wolfram syndrome

Autor: Regina S. Moisés, Aléxis Guedes, Maria Beatriz S Freire, Fábio Gasparin, Thais Della Manna, Camila P Salim, Ivaldir S Dalbosco, Márcio Gambini, Maria Regina R Gasparin, João M Marcantonio, Felipe Crispim, Sílvia L Paula, João Eduardo Nunes Salles

Publikováno v: Repositório Institucional da FURG (RI FURG)
Universidade Federal do Rio Grande (FURG)
instacron:FURG

ObjectiveWolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02585ff9d7c512a9122b8b70a63327a
http://repositorio.furg.br/handle/1/2518

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