Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation

Annals of Neurology

Volumn 60, Issue 5, 2006, Pages 528-539

  Jansen, An C ^a,b   Sancak, Ozgur ^c   D'Agostino, Maria Daniela ^a,b   Badhwar, AmanPreet ^a,b   Roberts, Penelope ^d   Gobbi, Gabriella ^b,e   Wilkinson, Ralph ^b   Melanson, Denis ^b   Tampieri, Donatella ^b   Koenekoop, Robert ^b,f   Gans, Mark ^b   Maat Kievit, Anneke ^c   Goedbloed, Miriam ^c   Van Den Ouweland, Ans M W ^c   Nellist, Mark ^c   Pandolfo, Massimo ^g   McQueen, Mary ^h   Sims, Katherine ^h   Thiele, Elisabeth A ^h   Dubeau, François ^b   Andermann, Frederick ^b   Kwiatkowski, David J ^d   Halley, Dicky J J ^c   Andermann, Eva ^a,b   more..

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f MONTREAL CHILDREN S HOSPITAL   (Canada)

^g UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TUBERIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; EMBRYO; FOCAL EPILEPSY; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; AGED; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; SEVERITY OF ILLNESS INDEX; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 33845308278     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21037     Document Type: Article

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