Mutation analysis of the MECP2 gene in patients with Rett syndrome. (Articolo in rivista)

Type
Label
  • Mutation analysis of the MECP2 gene in patients with Rett syndrome. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/ajmg.a.10898 (literal)
Alternative label
  • Conforti FL. Mazzei R. Magariello A. Patitucci A. Gabriele AL. Muglia M. Quattrone A. Fiumara A. Barone R. Pavone L. Nisticò R. Mangone L. (2003)
    Mutation analysis of the MECP2 gene in patients with Rett syndrome.
    in American journal of medical genetics. Part A (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Conforti FL. Mazzei R. Magariello A. Patitucci A. Gabriele AL. Muglia M. Quattrone A. Fiumara A. Barone R. Pavone L. Nisticò R. Mangone L. (literal)
Pagina inizio
  • 184 (literal)
Pagina fine
  • 187 (literal)
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  • http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.10898/pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 117A (literal)
Rivista
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  • 4 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Francesca L. Conforti, Rosalucia Mazzei, Angela Magariello, Alessandra Patitucci, Anna L. Gabriele, Maria Muglia, Aldo Quattrone from Institutes of Neurological Sciences National Research Council Piano Lago Mangone - Cosenza, Italy; Agata Fiumara, Rita Barone, Lorenzo Pavone from Department of Paediatrics University of Catania - Catania, Italy; Rita Barone Institute of Bioimaging and Pathophysiology of the Central Nervous System National Research Council- Catania, Italy; Rita Nisticò, Loredana Mangone, Aldo Quattrone, from Institute of Neurology, University Magna Graecia Catanzaro, Italy. (literal)
Titolo
  • Mutation analysis of the MECP2 gene in patients with Rett syndrome. (literal)
Abstract
  • To provide further insights into the distribution and spectrum of mutations at the MECP2 locus, 21 patients from Sicily were analyzed: 14 with classical RTT syndrome and seven with variant forms. Mutations in MECP2 were found in 10 of 14 classical Rett patients (71.4%), and in three of seven cases with a variant form (42.8%). Two novel mutations, not found in 100 control chromosomes, were detected. (literal)
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