Functional characterization of the TSC2 c.3598C>T...

Clinical Genetics 2012 Vol. 81; Iss. 5

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland, A Maat-Kievit
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Volume:
81
Year:
2012
Language:
english
Pages:
9
DOI:
10.1111/j.1399-0004.2011.01648.x
File:
PDF, 774 KB
english, 2012
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