A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

Mazzei, R; Conforti, F L; Lanza, P L; Sprovieri, T; Lupo, M R; Gallo, O; Patitucci, A; Magariello, A; Caracciolo, M; Gabriele, A L; Fera, F; Valentino, P; Bono, F; Cenacchi, G; Santoro, G; Muglia, M; Quattrone, A

Mazzei, R; Conforti, F L; Lanza, P L; Sprovieri, T; Lupo, M R; Gallo, O; Patitucci, A; Magariello, A; Caracciolo, M; Gabriele, A L; Fera, F; Valentino, P; Bono, F; Cenacchi, G; Santoro, G; Muglia, M; Quattrone, A.

Affiliation

Mazzei R; Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

Neurology ; 63(3): 561-4, 2004 Aug 10.

Article in En | MEDLINE | ID: mdl-15304596

Subject(s)

CADASIL/genetics; Proto-Oncogene Proteins/genetics; Receptors, Cell Surface/genetics; Sequence Deletion; Adult; Aged; CADASIL/pathology; Chromatography, High Pressure Liquid; Cysteine/chemistry; Exons/genetics; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pedigree; Protein Folding; Protein Structure, Tertiary; Proto-Oncogene Proteins/chemistry; Receptor, Notch3; Receptors, Cell Surface/chemistry; Receptors, Notch; Repetitive Sequences, Amino Acid; Structure-Activity Relationship

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Collection: 01-internacional Database: MEDLINE Main subject: Proto-Oncogene Proteins / Sequence Deletion / Receptors, Cell Surface / CADASIL Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Neurology Year: 2004 Type: Article Affiliation country: Italy

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