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Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

✍ Scribed by G.Y. El-Kamah; K. Fong; M. El-Ruby; H.H. Afifi; S.E. Clements; J.E. Lai-Cheong; K. Amr; M. El-Darouti; J.A. McGrath


Book ID
108671186
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
304 KB
Volume
163
Category
Article
ISSN
0007-0963

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Systemic hyalinosis mutations in the CMG
✍ Julie Deuquet; Laurence Abrami; Analisa Difeo; Maria Celeste M. Ramirez; John A. πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 339 KB

Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene. Here we have analyzed the cellular consequences of five patient-derived point mut