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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Liu J, et al. Among authors: Wu C. Nat Genet. 1998 Sep;20(1):31-6. doi: 10.1038/1682. Nat Genet. 1998. PMID: 9731526
Endoperoxide formation by an α-ketoglutarate-dependent mononuclear non-haem iron enzyme.
Yan W, Song H, Song F, Guo Y, Wu CH, Her AS, Pu Y, Wang S, Naowarojna N, Weitz A, Hendrich MP, Costello CE, Zhang L, Liu P, Zhang YJ. Yan W, et al. Among authors: Wu CH. Nature. 2015 Nov 26;527(7579):539-543. doi: 10.1038/nature15519. Epub 2015 Nov 2. Nature. 2015. PMID: 26524521 Free PMC article.
SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. Bejaoui K, et al. Among authors: Wu C, Wu L. Nat Genet. 2001 Mar;27(3):261-2. doi: 10.1038/85817. Nat Genet. 2001. PMID: 11242106
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