A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

@article{Li1995AFC,
  title={A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis},
  author={Yan Li and D. A Lacerda and Matthew L Warman and David R Beier and Hidefumi Yoshioka and Y Ninomiya and Julia Thom Oxford and Nicholas P. Morris and Konstantinos Andrikopoulos and Francesco Ramirez and Bryan B. Wardell and G. D Lifferth and Cory Teuscher and Scott R. Woodward and Benjamin A. Taylor and Robert E. Seegmiller and Bjorn Reino Olsen},
  journal={Cell},
  year={1995},
  volume={80},
  pages={423-430}
}
Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the alpha 1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of… CONTINUE READING

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