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

Clinical Genetics

Volumn 81, Issue 5, 2012, Pages 453-461

  Wentink, M ^a   Nellist, M ^a   Hoogeveen Westerveld, M ^a   Zonnenberg, B ^b   Van der Kolk, D ^c   Van Essen, T ^c   Park, S M ^d   Woods, G ^d   Cohn Hokke, P ^e   Brussel, W ^f   Smeets, E ^g   Brooks, A ^a   Halley, D ^a   Van den Ouweland, A ^a   Maat Kievit, A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RIJNSTATE HOSPITAL   (Netherlands)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Mild phenotype; Missense mutation; TSC2; Tuberous sclerosis complex

Indexed keywords

TUBERIN;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EPILEPSY; HUMAN; HUMAN CELL; IN VITRO STUDY; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SKIN DEFECT; TUBEROUS SCLEROSIS;

ANIMALS; CELL LINE; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; MALE; MICE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN BINDING; PROTEIN STABILITY; PROTEIN TRANSPORT; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84859562947     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01648.x     Document Type: Article

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