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Transgenic mice expressing a type II collagen mutation at G574→A resemble a case of human hypochondrogenesis with an identical mutation

✍ Scribed by Maddox, K.; Garofalo, S.; Smith, C.; Keene, D.; Zeleny-Pooley, M.; Ellard, J.; de Crombrugghe, B.; Horton, W.


Book ID
122950066
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
107 KB
Volume
14
Category
Article
ISSN
0945-053X

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Skeletal development in transgenic mice
✍ B. Kerry Maddox; Silvio Garofalo; Chad Smith; Douglas R. Keene; William A. Horto 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 407 KB

Skeletal development of transgenic mice with a type II collagen mutation was analyzed and compared with wild-type littermates. The single base substitution in Col2a1 resulted in a glycine to serine mutation within the helical domain and corresponded to one previously identified in a patient with the