Genetic and orthopedic aspects of collagen disorders Article Report uri icon

Overview

MeSH Major

  • Scoliosis

abstract

  • The collagen superfamily comprises an important structural protein in mammalian connective tissue. Mutation of collagens produces a wide variety of genetic disorders, and those mutations affecting types II, IX, and XI collagens produce an overlapping spectrum of skeletal dysplasias. Findings range from lethal to mild, depending on the mutation of the collagen gene and its subsequent effect on the structure and/or metabolism of the resultant procollagen and/or collagen protein and its function in the body.

publication date

  • February 2009

Research

keywords

  • Report

Identity

Digital Object Identifier (DOI)

  • 10.1097/MOP.0b013e32832185c5

PubMed ID

  • 19253462

Additional Document Info

start page

  • 46

end page

  • 54

volume

  • 21

number

  • 1