Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

OBJECTIVE: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. METHODS: We extracted genomic DNA from five members of a four-generation Chinese SEDT...

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Vydáno v:Int J Endocrinol
Hlavní autoři: Kong, Lei, Wang, Dongxu, Li, Shanshan, Zhang, Chengsheng, Jiang, Xiuyun, Guan, Qingbo, Zhang, Zhenlin, Jing, Fei, Xu, Jin
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311833/
https://ncbi.nlm.nih.gov/pubmed/30647738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8263136
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