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- W1918975785 abstract "Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of non-syndromic hereditary alopecia. Recently, loss-of-function mutations of an inhibitory upstream open reading frame (ORF) in the human hairless gene (HR), named U2HR, have been identified in some patients with MUHH. We investigated a sporadic Chinese patient with MUHH and identified a novel mutation in U2HR, c.14C>T (p.T5M), which extends the mutation spectrum of U2HR mutations." @default.
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- W1918975785 date "2012-01-01" @default.
- W1918975785 modified "2023-10-12" @default.
- W1918975785 title "Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis" @default.
- W1918975785 doi "https://doi.org/10.1684/ejd.2011.1573" @default.
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