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Title:

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

Document type:
Journal Article; Article
Author(s):
Hofmann, S; Philbrook, C; Gerbitz, KD; Bauer, MF
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
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/12913071
Print-ISSN:
0964-6906
TUM Institution:
Klinik und Poliklinik für RadioOnkologie und Strahlentherapie
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