p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease...

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Publicado en:Eur J Hum Genet
Autores principales: Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795103/
https://ncbi.nlm.nih.gov/pubmed/25370043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.243
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