Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform-Reference-Cited by-同舟云学术

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

Published:2017-02 Issue:2 Volume:60 Page:93-99
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Calì Francesco,Chiavetta Valeria,Ruggeri Giuseppa,Piccione Maria^ORCID,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^ORCID,Ragalmuto Alda,Romano Corrado^ORCID,Ruggieri Martino,Salluzzo Roberto,Saporoso Antonino,Schepis Carmelo,Sorge Giovanni,Spanò Maria,Tortorella Gaetano,Romano Valentino^ORCID

Funder

Italian Ministry of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference42 articles.

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3. The importance of mutation screening in 'false-positive' MLPA cases;Bunyan;J. Med. Genet.,2003

4. Forensic considerations in cases of neurofibromatosis an overview;Byard;J. Forensic Sci.,2007

5. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics;Cali;Exp. Mol. Med.,2010

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