NovelCTSKmutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis
Author:
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12091/fullpdf
Reference11 articles.
1. Pyknodysostosis;Maroteaux;Presse Med.,1962
2. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency;Gelb;Science,1996
3. Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification;Bossard;J. Biol. Chem.,1996
4. A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis;Johnson;Genome Res.,1996
5. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis;Hou;J. Clin. Invest.,1999
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