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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
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...     »
Zeitschriftentitel:
Hum Mol Genet
Jahr:
2003
Band / Volume:
12
Heft / Issue:
16
Seitenangaben Beitrag:
2003-12
Sprache:
eng
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/12913071
Print-ISSN:
0964-6906
TUM Einrichtung:
Klinik und Poliklinik für RadioOnkologie und Strahlentherapie
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