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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.

par Bertelli, Matteo;Randi, D;Micheli, V;Gallo, S;Andrighetto, Gilberto;Parmigiani, P;Jacomelli, G;Carella, M;Lievore, C;Pandolfo, Massimo
Référence Journal of inherited metabolic disease, 27, 6, page (767-773)
Publication Publié, 2004

Article révisé par les pairs

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Titre:	Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Auteur:	Bertelli, Matteo; Randi, D; Micheli, V; Gallo, S; Andrighetto, Gilberto; Parmigiani, P; Jacomelli, G; Carella, M; Lievore, C; Pandolfo, Massimo
Informations sur la publication:	Journal of inherited metabolic disease, 27, 6, page (767-773)
Statut de publication:	Publié, 2004
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adolescent
	Adult
	DNA -- genetics
	Exons -- genetics
	Female
	Gene Deletion
	Heterozygote
	Humans
	Hypoxanthine Phosphoribosyltransferase -- deficiency
	Italy
	Lesch-Nyhan Syndrome -- genetics
	Lymphocytes -- enzymology
	Lymphocytes -- metabolism
	Male
	Middle Aged
	Mutation
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0141-8955
	info:doi/10.1023/B:BOLI.0000045799.78633.23
	info:pii/5394413
	info:scp/7244240725
	info:pmid/15505382