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Lack of collagen XVIII/endostatin results in eye abnormalities

โœ Scribed by Fukai, N.


Book ID
111749235
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
383 KB
Volume
21
Category
Article
ISSN
0261-4189

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## Abstract Knobloch syndrome is characterized by a congenital generalized eye disease and cranial defect. Pathogenic mutations preferentially lead to a deletion or functional alteration of collagen XVIII's most Cโ€terminal endostatin domain. Endostatin can be released from collagen XVIII and is a p