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  2. Details for: Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. [electronic resource]

By:
  • Calì, Francesco
Contributor(s):
  • Chiavetta, Valeria
  • Ruggeri, Giuseppa
  • Piccione, Maria
  • Selicorni, Angelo
  • Palazzo, Daniela
  • Bonsignore, Maria
  • Cereda, Anna
  • Elia, Maurizio
  • Failla, Pinella
  • Figura, Maria Grazia
  • Fiumara, Agata
  • Maitz, Silvia
  • Luana Mandarà, Giuseppa Maria
  • Mattina, Teresa
  • Ragalmuto, Alda
  • Romano, Corrado
  • Ruggieri, Martino
  • Salluzzo, Roberto
  • Saporoso, Antonino
  • Schepis, Carmelo
  • Sorge, Giovanni
  • Spanò, Maria
  • Tortorella, Gaetano
  • Romano, Valentino
Producer: 20170210Description: 93-99 p. digitalISSN:
  • 1878-0849
Subject(s):
  • Adolescent
  • Adult
  • Cafe-au-Lait Spots -- genetics
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Italy
  • Male
  • Middle Aged
  • Mosaicism
  • Mutation
  • Neurofibromatosis 1 -- genetics
  • Neurofibromin 1 -- genetics
  • Sequence Analysis, DNA
  • Skin Abnormalities -- genetics
Online resources:
  • Available from publisher's website
In: European journal of medical genetics vol. 60
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Publication Type: Journal Article

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

APA

Calì F., Chiavetta V., Ruggeri G., Piccione M., Selicorni A., Palazzo D., Bonsignore M., Cereda A., Elia M., Failla P., Figura M. G., Fiumara A., Maitz S., Luana Mandarà G. M., Mattina T., Ragalmuto A., Romano C., Ruggieri M., Salluzzo R., Saporoso A., Schepis C., Sorge G., Spanò M., Tortorella G. & Romano V. (20170210). Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. : European journal of medical genetics.

Chicago

Calì Francesco, Chiavetta Valeria, Ruggeri Giuseppa, Piccione Maria, Selicorni Angelo, Palazzo Daniela, Bonsignore Maria, Cereda Anna, Elia Maurizio, Failla Pinella, Figura Maria Grazia, Fiumara Agata, Maitz Silvia, Luana Mandarà Giuseppa Maria, Mattina Teresa, Ragalmuto Alda, Romano Corrado, Ruggieri Martino, Salluzzo Roberto, Saporoso Antonino, Schepis Carmelo, Sorge Giovanni, Spanò Maria, Tortorella Gaetano and Romano Valentino. 20170210. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. : European journal of medical genetics.

Harvard

Calì F., Chiavetta V., Ruggeri G., Piccione M., Selicorni A., Palazzo D., Bonsignore M., Cereda A., Elia M., Failla P., Figura M. G., Fiumara A., Maitz S., Luana Mandarà G. M., Mattina T., Ragalmuto A., Romano C., Ruggieri M., Salluzzo R., Saporoso A., Schepis C., Sorge G., Spanò M., Tortorella G. and Romano V. (20170210). Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. : European journal of medical genetics.

MLA

Calì Francesco, Chiavetta Valeria, Ruggeri Giuseppa, Piccione Maria, Selicorni Angelo, Palazzo Daniela, Bonsignore Maria, Cereda Anna, Elia Maurizio, Failla Pinella, Figura Maria Grazia, Fiumara Agata, Maitz Silvia, Luana Mandarà Giuseppa Maria, Mattina Teresa, Ragalmuto Alda, Romano Corrado, Ruggieri Martino, Salluzzo Roberto, Saporoso Antonino, Schepis Carmelo, Sorge Giovanni, Spanò Maria, Tortorella Gaetano and Romano Valentino. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. : European journal of medical genetics. 20170210.

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