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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Among authors: fung gpg, fung cw, fung jlf, fung sth. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 Free PMC article.
Infants born to mothers with severe acute respiratory syndrome.
Shek CC, Ng PC, Fung GP, Cheng FW, Chan PK, Peiris MJ, Lee KH, Wong SF, Cheung HM, Li AM, Hon EK, Yeung CK, Chow CB, Tam JS, Chiu MC, Fok TF. Shek CC, et al. Among authors: fung gp. Pediatrics. 2003 Oct;112(4):e254. doi: 10.1542/peds.112.4.e254. Pediatrics. 2003. PMID: 14523207
187 results