Article
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
European journal of human genetics : EJHG - 1 May 2015
Pasmant Eric, Parfait Béatrice, Luscan Armelle, Goussard Philippe, Briand-Suleau Audrey, Laurendeau Ingrid, Fouveaut Corinne, Leroy Chrystel, Montadert Annelore, Wolkenstein Pierre, Vidaud Michel, Vidaud Dominique
Abstract excerpt
Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was confirmed in patients with SPRED1 mutations. Here, we present a targeted next-generation sequencing (NGS) of NF1 and SPRED1 using a...
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