MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO)-Reference-Cited by-同舟云学术

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO)

Published:2005-10-01 Issue:10 Volume:115 Page:2832-2842
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Kennedy Ann M.,Inada Masaki,Krane Stephen M.,Christie Paul T.,Harding Brian,López-Otín Carlos,Sánchez Luis M.,Pannett Anna A.J.,Dearlove Andrew,Hartley Claire,Byrne Michael H.,Reed Anita A.C.,Nesbit M. Andrew,Whyte Michael P.,Thakker Rajesh V.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference50 articles.

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2. Molecular-pathogenetic classification of genetic disorders of the skeleton

3. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

4. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

5. Spondyloepimetaphyseal Dysplasia

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