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Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease

โœ Scribed by T. Muramatsu; N. Sakai; I. Yanagihara; M. Yamada; T. Nishigaki; C. Kokubu; H. Tsukamoto; M. Ito; K. Inui


Book ID
110413720
Publisher
Springer
Year
2002
Tongue
English
Weight
327 KB
Volume
25
Category
Article
ISSN
0141-8955

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Molecular analysis of acid ceramidase de
โœ Julia Bรคr; Thomas Linke; Klaus Ferlinz; Ulrich Neumann; Edward H. Schuchman; Kon ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 319 KB

Farber disease is a rare, autosomal recessively inherited sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues. Here we report the identification of six novel mutations in the acid ceramidase gene causi