Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

BMC medical genetics

Volumn 9, Issue , 2008, Pages 10-

  Nellist, Mark ^a   Sancak, Ozgür ^a   Goedbloed, Miriam ^a   Adriaans, Alwin ^a   Wessels, Marja ^a   Maat Kievit, Anneke ^a   Baars, Marieke ^a   Dommering, Charlotte ^a   van den Ouweland, Ans ^a   Halley, Dicky ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; FEMALE; GENETIC VARIABILITY; GENETICS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; TUBEROUS SCLEROSIS;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; PEDIGREE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; VARIATION (GENETICS);

MLCS; MLOWN;

EID: 41949126583     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-10     Document Type: Article

References (0)