Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no specific hotspots and few solid genotype/phenotype...

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Veröffentlicht in:Int J Mol Sci
Hauptverfasser: Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi, Elena, Martorana, Davide, Percesepe, Antonio
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5666753/
https://ncbi.nlm.nih.gov/pubmed/28961165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18102071
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