A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Detalles Bibliográficos
Autores principales: Fukuma, Mami, Takagi, Masaki, Shimazu, Tomoyuki, Imamura, Hoseki, Yagi, Hiroko, Nishimura, Gen, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073055/
https://www.ncbi.nlm.nih.gov/pubmed/30083037
http://dx.doi.org/10.1297/cpe.27.193

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073055/
https://www.ncbi.nlm.nih.gov/pubmed/30083037
http://dx.doi.org/10.1297/cpe.27.193

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