Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online
Flagiello, L, Cirigliano, V, Strazzullo, M, Cappa, V, Ciccodicola, A, D'Esposito, M, Torrente, I, Werner, R, Di Iorio, G, Rinaldi, M, Dallapiccola, A, Forabosco, A, Ventruto, V, D'Urso, M
Published in Human mutation (1998)
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Published in Human mutation (1998)
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Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene : Clinical features and longitudinal observations
PANNARALE, M. R, GRAMMATICO, B, IANNACCONE, A, FORTE, R, DE BERNARDO, C, FLAGIELLO, L, VINGOLO, E. M, DEL PORTO, G
Published in Ophthalmology (Rochester, Minn.) (01.09.1996)
Published in Ophthalmology (Rochester, Minn.) (01.09.1996)
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Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa
SIMONELLI, FRANCESCA, RINALDI, MARIO, NESTI, ANNA, TESTA, FRANCESCO, RINALDI, ERNESTO, CICCODICOLA, ALFREDO, FLAGIELLO, LUISA, MIANO, MARIA GIUSEPPINA, VENTRUTO, VALERIO, D’URSO, MICHELE
Published in British journal of ophthalmology (01.06.1998)
Published in British journal of ophthalmology (01.06.1998)
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A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation
D'Esposito, Maurizio, Ciccodicola, Alfredo, Gianfrancesco, Fernando, Esposito, Teresa, Flagiello, Luisa, Mazzarella, Richard, Schlessinger, David, D'Urso, Michele
Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
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Journal Article
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation
D'Esposito, M, Ciccodicola, A, Gianfrancesco, F, Esposito, T, Flagiello, L, Mazzarella, R, Schlessinger, D, D'Urso, M
Published in Nature genetics (01.06.1996)
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Published in Nature genetics (01.06.1996)
Journal Article
Expressed STSs and transcription of human Xq28
Esposito, Teresa, Ciccodicola, Alfredo, Flagiello, Luisa, Matarazzo, Maria Rosaria, Migliaccio, Carmela, Cifarelli, Rosa Anna, Visone, Raffaella, Campanile, Ciro, Mazzarella, Richard, Schlessinger, David, D'Urso, Michele, D'Esposito, Maurizio
Published in Gene (18.03.1997)
Published in Gene (18.03.1997)
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Journal Article
Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa
Simonelli, F, Rinaldi, M, Nesti, A, Testa, F, Rinaldi, E, Ciccodicola, A, Flagiello, L, Miano, M G, Ventruto, V, D'Urso, M
Published in The British journal of ophthalmology (01.06.1998)
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Published in The British journal of ophthalmology (01.06.1998)
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