Literature DB >> 9793205

Electron microscopical study in multiple epiphyseal dysplasia type II.

J B van Mourik1, P Buma, W R Wilcox.   

Abstract

An electron microscopic examination of articular cartilage of two cases with multiple epiphyseal dysplasia type II was performed. The cartilage had a normal cell distribution and no signs of gross degeneration were found. Chondrocytes showed normal ultrastructural characteristics without dilation of the rough endoplasmic reticulum. The matrix contained normal banded collagen fibrils, proteoglycans, and aggregated fibrils.

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Year:  1998        PMID： 9793205     DOI： 10.3109/01913129809033476

Source DB:  PubMed          Journal:  Ultrastruct Pathol        ISSN： 0191-3123            Impact factor:   1.094


  2 in total

1.  A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authors:  C G Bönnemann; G F Cox; F Shapiro; J J Wu; C A Feener; T G Thompson; D C Anthony; D R Eyre; B T Darras; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Authors:  P Holden; E G Canty; G R Mortier; B Zabel; J Spranger; A Carr; M E Grant; J A Loughlin; M D Briggs
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025
  2 in total

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