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- W2041832138 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." @default.
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- W2041832138 date "2002-01-01" @default.
- W2041832138 modified "2023-10-15" @default.
- W2041832138 title "A Novel Nonsense Mutation of the Sedlin Gene in a Family with Spondyloepiphyseal Dysplasia Tarda" @default.
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- W2041832138 doi "https://doi.org/10.1159/000066694" @default.
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