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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...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5993830/ https://ncbi.nlm.nih.gov/pubmed/29899997 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0012-z |
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