Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

✍ Scribed by Smith, A. C.; Mears, A. J.; Bunker, R.; Ahmed, A.; MacKenzie, M.; Schwartzentruber, J. A.; Beaulieu, C. L.; Ferretti, E.; Majewski, J.; Bulman, D. E.; Celik, F. C.; Boycott, K. M.; Graham, G. E.

• Book ID: 124157585
• Publisher: BMJ Publishing Group
• Year: 2014
• Tongue: English
• Weight: 695 KB
• Volume: 51
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmedgenet-2013-102218