A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda |
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| Authors: | Shi Yi-Ru Lee Cheng-Chun Hsu Yu-An Wang Chung-Hsing Tsai Fuu-Jen |
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| Institution: | Department of Medical Research, China Medical College Hospital, Taichung, Taiwan. |
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| Abstract: | We report a new nonsense mutation in the human sedlin (SEDL) gene in a family with X-linked spondyloepiphyseal dysplasia tarda. A substitution of cytosine for adenine at nucleotide position 329 causing a nonsense mutation (S110X) in exon 6 was identified in the affected patient in the family. |
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