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Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran

โœ Scribed by Khademian, H; Mehravar, E; Urtizberea, JA; Sagoo, S; Sandoval, L; Carbajo, R; Darvish, B; Valles-Ayoub, Y; Darvish, D


Book ID
120985345
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
616 KB
Volume
84
Category
Article
ISSN
0009-9163

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Mutations spectrum of GNE in hereditary
โœ Iris Eisenberg; Gil Grabov-Nardini; Hagit Hochner; Mira Korner; Menachem Sadeh; ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 41 KB

Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE), as the mu