A Novel Nonsense Mutation of the Sedlin Gene in a Family with Spondyloepiphyseal Dysplasia Tarda
- 1 November 2002
- journal article
- other
- Published by S. Karger AG in Human Heredity
- Vol. 54 (1) , 54-56
- https://doi.org/10.1159/000066694
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.Keywords
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