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Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had differ...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993830/ https://www.ncbi.nlm.nih.gov/pubmed/29899997 http://dx.doi.org/10.1038/s41439-018-0012-z |