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Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan

✍ Scribed by R. Kira; Kenji Ihara; Kyoko Watanabe; Satomi Kanemitsu; Saif Uddin Ahmed; Kenjiro Gondo; Kenzo Takeshita; Toshiro Hara


Book ID
106252496
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
62 KB
Volume
44
Category
Article
ISSN
1435-232X

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Molecular basis of very long chain acyl-
✍ Hiroh Watanabe; Kenji E. Orii; Toshiyuki Fukao; Xiang-Qian Song; Toshifumi Aoyam πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 343 KB πŸ‘ 3 views

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm