Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?
Author:
Funder
KACST
DHFMR Collaborative Research Grant
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference6 articles.
1. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations;Akawi;Clin. Genet.,2012
2. Fibrochondrogenesis: radiologic and histologic studies;Eteson;Am. J. Med. Genet.,1984
3. Recent developments in cartilage research: matrix biology of the collagen II/IX/XI heterofibril network;Eyre;Biochem. Soc. Trans.,2002
4. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis;Li;Cell,1995
5. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene;Tompson;Am. J. Hum. Genet.,2010
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