Article
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.
Human genetics - 1 Jun 2001
Kashiwagi H, Tomiyama Y, Nozaki S, Kiyoi T, Tadokoro S, Matsumoto K, Honda S, Kosugi S, Kurata Y, Matsuzawa Y
Abstract excerpt
To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 839-841, and 5 bp, AAAAC, were inserted at the same position (839-841del-->insAAAAC). Mutation...
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