Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the TRAPPC2 gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the function of the variant in an attempt to explain the...

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Detalles Bibliográficos
Autores principales: Lou, Guiyu, Zhao, Yuanyin, Zhao, Huiru, Zhang, Yuwei, Hao, Bingtao, Qin, Litao, Liu, Hongyan, Liao, Shixiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492639/
https://www.ncbi.nlm.nih.gov/pubmed/37693308
http://dx.doi.org/10.3389/fgene.2023.1216592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492639/
https://www.ncbi.nlm.nih.gov/pubmed/37693308
http://dx.doi.org/10.3389/fgene.2023.1216592

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