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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

par Jansen, An;Sancak, Ozgur;D'Agostino, Maria Daniela;Badhwar, Amanpreet;Roberts, Penelope;Gobbi, Gabriella;Wilkinson, Ralph;Melanson, Denis;Tampieri, Donatella;Koenekoop, Robert;Gans, Mark;Maat-Kievit, Anneke;Goedbloed, Miriam;van den Ouweland, Ans M W;Nellist, Mark;Pandolfo, Massimo ;McQueen, Mary;Sims, Katherine;Thiele, Elisabeth A;Dubeau, Francois;Andermann, Frederick;Kwiatkowski, David J;Halley, Dicky J J;Andermann, Eva
Référence Annals of neurology, 60, 5, page (528-539)
Publication Publié, 2006-11

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Titre:	Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Auteur:	Jansen, An; Sancak, Ozgur; D'Agostino, Maria Daniela; Badhwar, Amanpreet; Roberts, Penelope; Gobbi, Gabriella; Wilkinson, Ralph; Melanson, Denis; Tampieri, Donatella; Koenekoop, Robert; Gans, Mark; Maat-Kievit, Anneke; Goedbloed, Miriam; van den Ouweland, Ans M W; Nellist, Mark; Pandolfo, Massimo; McQueen, Mary; Sims, Katherine; Thiele, Elisabeth A; Dubeau, Francois; Andermann, Frederick; Kwiatkowski, David J; Halley, Dicky J J; Andermann, Eva
Informations sur la publication:	Annals of neurology, 60, 5, page (528-539)
Statut de publication:	Publié, 2006-11
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adolescent
	Adult
	Aged
	Child
	Chromatography, High Pressure Liquid
	Codon -- genetics
	DNA Mutational Analysis
	Exons -- genetics
	Female
	Genotype
	Humans
	Male
	Middle Aged
	Pedigree
	Phenotype
	Point Mutation -- genetics
	Severity of Illness Index
	Tuberous Sclerosis -- genetics
	Tuberous Sclerosis -- metabolism
	Tumor Suppressor Proteins -- genetics
	Tumor Suppressor Proteins -- metabolism
Note générale:	Journal Article
	Research Support, N.I.H., Extramural
	Research Support, Non-U.S. Gov't
	FLWIN
Langue:	Anglais
Identificateurs:	urn:issn:0364-5134
	info:doi/10.1002/ana.21037
	info:scp/33845308278
	info:pmid/17120248