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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Publicat a:Hum Genome Var
Autors principals: Ichihashi, Yosuke, Takagi, Masaki, Ishii, Tomohiro, Watanabe, Kenji, Nishimura, Gen, Hasegawa, Tomonobu
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Data Report
Accés en línia: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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