Search Results - "Bono, Franco"
-
1
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Published in Nature genetics (01-05-2000)“…A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on…”
Get full text
Journal Article -
2
New Classification of Defects and Imperfections for Aluminum Alloy Castings
Published in International journal of metalcasting (2015)“…In recent years, aluminum alloys have become more and more relevant because of their low density, coupled with good mechanical and corrosion properties…”
Get full text
Journal Article -
3
Comparison of different techniques for detecting 17p12 duplication in CMT1A
Published in Neuromuscular disorders : NMD (01-07-2005)“…Charcot–Marie-Tooth type 1A is caused by a 1.5 Mb DNA duplication in the 17p12 chromosomal region encompassing the peripheral myelin protein 22 gene. In the…”
Get full text
Journal Article