TY  - GEN
AU  - Nellist,Mark
AU  - Sancak,Ozgür
AU  - Goedbloed,Miriam
AU  - Adriaans,Alwin
AU  - Wessels,Marja
AU  - Maat-Kievit,Anneke
AU  - Baars,Marieke
AU  - Dommering,Charlotte
AU  - van den Ouweland,Ans
AU  - Halley,Dicky
TI  - Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
SN  - 1471-2350
PY  - 2008///0414
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Variation
KW  - Humans
KW  - Male
KW  - Pedigree
KW  - Tuberous Sclerosis
KW  - genetics
KW  - Tuberous Sclerosis Complex 1 Protein
KW  - Tuberous Sclerosis Complex 2 Protein
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S
UR  - https://doi.org/10.1186/1471-2350-9-10
ER  -