Skip to content
VuFind
    • English
    • Deutsch
    • Español
    • Français
    • Italiano
    • 日本語
    • Nederlands
    • Português
    • Português (Brasil)
    • 中文(简体)
    • 中文(繁體)
    • Türkçe
    • עברית
    • Gaeilge
    • Cymraeg
    • Ελληνικά
    • Català
    • Euskara
    • Русский
    • Čeština
    • Suomi
    • Svenska
    • polski
    • Dansk
    • slovenščina
    • اللغة العربية
    • বাংলা
    • Galego
    • Tiếng Việt
    • Hrvatski
    • हिंदी
    • Հայերէն
    • Українська
    • Sámegiella
    • Монгол
高級檢索
  • Spondyloepimetaphyseal dysplas...
  • 引用
  • 發送短信
  • 推薦此
  • 打印
  • 導出紀錄
    • 導出到 RefWorks
    • 導出到 EndNoteWeb
    • 導出到 EndNote
  • Permanent link
Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

書目詳細資料
Main Authors: Kennedy, A, Christi, P, Harding, B, Pannett, A, Dearlove, A, Whyte, M, Thakker, R
格式: Conference item
出版: 2002
  • 持有資料
  • 實物特徵
  • 相似書籍
  • 職員瀏覽

相似書籍

  • MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    由: Kennedy, A, et al.
    出版: (2005)
  • Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
    由: Gertner, J, et al.
    出版: (1997)
  • Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
    由: Alice Costantini, et al.
    出版: (2020-10-01)
  • LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
    由: Gertner, J, et al.
    出版: (1995)
  • Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
    由: Prince Jacob, et al.
    出版: (2023-11-01)

檢索選項

  • 檢索歷史
  • 高級檢索

查找更多

  • 瀏覽目錄
  • 按字母順序瀏覽
  • Explore Channels
  • 課程儲備
  • 新項目

需要幫助?

  • 檢索技巧
  • 咨詢台
  • 常見問題