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Document type:
journal article 
Author(s):
Hofmann, S; Philbrook, C; Gerbitz, KD; Bauer, MF 
Title:
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. 
Abstract:
Mutations of the WFS1 gene are responsible for Wolfram syndrome, a rare, recessive disorder characterized by early-onset, non-autoimmune diabetes mellitus, optic atrophy and further neurological and endocrinological abnormalities. The WFS1 gene encodes wolframin, a putative multispanning membrane glycoprotein of the endoplasmic reticulum. The function of wolframin is completely unknown. In order to characterize wolframin, we have generated polyclonal antibodies against both hydrophilic termini o...    »
 
Journal title abbreviation:
Hum Mol Genet 
Year:
2003 
Journal volume:
12 
Journal issue:
16 
Pages contribution:
2003-12 
Language:
eng 
Print-ISSN:
0964-6906 
TUM Institution:
r RadioOnkologie und Strahlentherapie