Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

Author
Gooding, R.
King, R. H. M.
Angelicheva, D.
Colomer, J.
Parman, Y.
Kalaydjieva, L.
Conill, J.
Nascimento, A.
Metadata
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URI
http://hdl.handle.net/20.500.12627/41113
https://doi.org/10.1016/j.nmd.2006.05.078
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