A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele, Anna Lia; Ruggieri, Martino; Patitucci, Alessandra; Magariello, Angela; Conforti, Francesca Luisa; Mazzei, Rosalucia; Muglia, Maria; Ungaro, Carmine; Di Palma, Gemma; Citrigno, Luigi; Sproviero, William; Gambardella, Antonio; Quattrone, Aldo

Gabriele, Anna Lia; Ruggieri, Martino; Patitucci, Alessandra; Magariello, Angela; Conforti, Francesca Luisa; Mazzei, Rosalucia; Muglia, Maria; Ungaro, Carmine; Di Palma, Gemma; Citrigno, Luigi; Sproviero, William; Gambardella, Antonio; Quattrone, Aldo.

Affiliation

Gabriele AL; Institute of Neurological Science (ISN), National Research Council (CNR), Piano Lago di Mangone, Cosenza, Italy. al.gabriele@isn.cnr.it1

Childs Nerv Syst ; 27(4): 635-8, 2011 Apr.

Article in En | MEDLINE | ID: mdl-20927530

Subject(s)

Genes, Neurofibromatosis 1; Neurofibromatosis 1/genetics; Base Sequence; Cafe-au-Lait Spots/genetics; Child; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Family; Female; Frameshift Mutation; Humans; Italy; Male; Middle Aged; Molecular Sequence Data; Pedigree; Polymerase Chain Reaction

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Full text: 1 Database: MEDLINE Main subject: Genes, Neurofibromatosis 1 / Neurofibromatosis 1 Limits: Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Childs Nerv Syst Journal subject: NEUROLOGIA / PEDIATRIA Year: 2011 Type: Article Affiliation country: Italy

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