𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Autosomal recessive osteopetrosis: report of 41 novel mutations in theTCIRG1gene and diagnostic implications

✍ Scribed by A. Pangrazio, M. E. Caldana, N. L. Iacono, S. Mantero, P. Vezzoni, A. Villa, C. Sobacchi


Book ID
118780325
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
168 KB
Volume
23
Category
Article
ISSN
0937-941X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Transglutaminase-1 gene mutations in aut
✍ Matthew L. Herman; Sharifeh Farasat; Peter J. Steinbach; Ming-Hui Wei; Ousmane T πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 507 KB

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurall