Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies Mutations in PLSD-T

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 133A; no. 1; pp. 61 - 67
Main Authors Zankl, Andreas, Neumann, Luitgard, Ignatius, Jaako, Nikkels, Peter, Schrander-Stumpel, Connie, Mortier, Geert, Omran, Heymut, Wright, Michael, Hilbert, Katja, Bonafé, Luisa, Spranger, Juergen, Zabel, Bernhard, Superti-Furga, Andrea
Format Journal Article
LanguageEnglish
Published 15.02.2005
Online AccessGet full text

Cover

More Information
ISSN:1552-4825
DOI:10.1002/ajmg.a.30531