Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

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 pat...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402624/
https://ncbi.nlm.nih.gov/pubmed/25074460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.145
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky