Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia
โ Scribed by Eiji Nakashima; Akihiko Mabuchi; Mitsuru Kubota; Satoshi Ishikiriyama; Hirofumi Ohashi; Gen Nishimura; Shiro Ikegawa
- Book ID
- 101446065
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 75 KB
- Volume
- 132A
- Category
- Article
- ISSN
- 1552-4825
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Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP
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