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pro vyhledávání: '"Sindrome di Wolfram"'
Autor:
TORCHIO, SILVIA
Wolfram Syndrome 1 (WS1) is a devastating genetic disease manifesting with diabetes mellitus, diabetes insipidus, optic nerve atrophy and deafness. It is caused by dominant or recessive mutations in the WFS1 gene, coding for Wolframin, a transmembran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::94ed821de0ae81287ace320c5e2ad8c0
Autor:
ROSSI, GRETA
Wolfram syndrome (WS) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes and psychiatric traits are the most prominent. WFS1 encodes for the ER-resident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10495::f1cd6ff4906204e4cf697a1e656769af