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Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".
Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ. Boissy RE, et al. Among authors: Zhao H, Zhao Y. Am J Hum Genet. 1996 Jun;58(6):1145-56. Am J Hum Genet. 1996. PMID: 8651291 Free PMC article.
Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activity.
Zhao H, Zhao Y, Nordlund JJ, Boissy RE. Zhao H, et al. Among authors: Zhao Y. Pigment Cell Res. 1994 Jun;7(3):131-40. doi: 10.1111/j.1600-0749.1994.tb00040.x. Pigment Cell Res. 1994. PMID: 7971745
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y. Qi H, et al. Among authors: Zhao H. PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30532227 Free PMC article. Clinical Trial.
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