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A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis.

Journal of dermatological science - 1 Aug 2009

Cai Li-Qiong, Wang Pei-Guang, Gao Min, Lu Wen-Sheng, Xu Sheng-Xin, Fang Qiao-Yun, Zhou Wen-Ming, Lin Da, Du Wen-Hui, Zhang Shu-Mei, Yang Sen, Zhang Xue-Jun

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PMID: 19540091
DOI: 10.1016/j.jdermsci.2009.04.009

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Related research

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Research trail→

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A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis.PMID 19540091Read ↗

Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family.Semantic proximity Read ↗

Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.Semantic proximity Read ↗

Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.Semantic proximity Read ↗

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.Semantic proximity Read ↗

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A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.Semantic proximity Read ↗

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosisSemantic proximity Read ↗

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Semantic proximity Read ↗

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