Article
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Journal of human genetics - 1 Apr 2015
Imbard Apolline, Pasmant Eric, Sabbagh Audrey, Luscan Armelle, Soares Magali, Goussard Philippe, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanne-Chantelot Christine, Vidaud Dominique, Wolkenstein Pierre, Parfait Béatrice
Abstract excerpt
Neurofibromatosis type 1 (NF1) is caused by dominant loss-of-function mutations of the tumor suppressor NF1 containing 57 constitutive coding exons. A huge number of different pathogenic NF1 alterations has been reported. The aim of the present study was to evaluate the usefulness of a multiplex ligation-dependent probe amplification (MLPA) approach in NF1 patients to detect single and multi-exon NF1 gene copy...
Topics
- Adolescent
- Adult
- Child
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Exons
- Female
- Gene Order
- Genes, Neurofibromatosis 1
- Humans
- Male
- Middle Aged
- Mutation