Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants

Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Invo...

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Detalles Bibliográficos
Autores principales: Ulusal, SD, Gürkan, H, Atlı, E, Özal, SA, Çiftdemir, M, Tozkır, H, Karal, Y, Güçlü, H, Eker, D, Görker, I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596817/
https://www.ncbi.nlm.nih.gov/pubmed/28924536
http://dx.doi.org/10.1515/bjmg-2017-0008

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