Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Human Mutation

Volumn 32, Issue 4, 2011, Pages 424-435

  Hoogeveen Westerveld, Marianne ^a   Wentink, Marjolein ^a   van den Heuvel, Diana ^a   Mozaffari, Melika ^a   Ekong, Rosemary ^b   Povey, Sue ^b   den Dunnen, Johan T ^c   Metcalfe, Kay ^d   Vallee, Stephanie ^e   Krueger, Stefan ^f   Bergoffen, Joann ^g   Shashi, Vandana ^h   Elmslie, Frances ⁱ   Kwiatkowski, David ^j   Sampson, Julian ^k   Vidales, Concha ^l   Dzarir, Jacinta ^m   Garcia Planells, Javier ⁿ   Dies, Kira ^o   Maat Kievit, Anneke ^a   van den Ouweland, Ans ^a   Halley, Dicky ^a   Nellist, Mark ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^e DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^f Center for Human Genetics   (Germany)

^g San Jose Medical Center   (United States)

^h DUKE UNIVERSITY MEDICAL CENTER   (United States)

ⁱ ST GEORGE S HOSPITAL   (United Kingdom)

^j BRIGHAM AND WOMEN S HOSPITAL   (United States)

^k CARDIFF UNIVERSITY   (United Kingdom)

^l Policlinica Gipuzka ^*  (Spain)

^m PRINCE OF WALES HOSPITAL   (Australia)

ⁿ UNIVERSITY OF VALENCIA   (Spain)

^o BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

TSC1; TSC2; Tuberous sclerosis complex; Unclassified variants

Indexed keywords

AMINO ACID; PROTEIN; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; COMPUTER PROGRAM; CONTROLLED STUDY; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; IMMUNOBLOTTING; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; TUBEROUS SCLEROSIS COMPLEX; WILD TYPE;

CELLS, CULTURED; GENETIC VARIATION; HUMANS; MODELS, GENETIC; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 79952758204     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21451     Document Type: Article

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