Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa

研究成果: Article

抄録

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.

元の言語English
記事番号12
ジャーナルHuman Genome Variation
5
発行部数1
DOI
出版物ステータスPublished - 2018 12 1

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Cartilage Oligomeric Matrix Protein
Osteochondrodysplasias
Mutation
Genes
Pseudoachondroplasia

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

これを引用

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia. / Ichihashi, Yosuke; Takagi, Masaki; Ishii, Tomohiro; Watanabe, Kenji; Nishimura, Gen; Hasegawa, Tomonobu.

:: Human Genome Variation, 巻 5, 番号 1, 12, 01.12.2018.

研究成果: Article

Ichihashi, Yosuke ; Takagi, Masaki ; Ishii, Tomohiro ; Watanabe, Kenji ; Nishimura, Gen ; Hasegawa, Tomonobu. / Two novel mutations of COMP in Japanese boys with pseudoachondroplasia. :: Human Genome Variation. 2018 ; 巻 5, 番号 1.
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