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- W2806887478 abstract "Abstract 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 different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED." @default.
- W2806887478 created "2018-06-13" @default.
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- W2806887478 date "2018-06-08" @default.
- W2806887478 modified "2023-10-13" @default.
- W2806887478 title "Two novel mutations of COMP in Japanese boys with pseudoachondroplasia" @default.
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- W2806887478 doi "https://doi.org/10.1038/s41439-018-0012-z" @default.
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