NF1 single and multi-exons copy number variations in neurofibromatosis type 1
NF1 single and multi-exons copy number variations in neurofibromatosis type 1
About this item
Full title
Author / Creator
members of the NF France Network , the members of the NF France Network , 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 and Parfait, Béatrice
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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) approac...
Alternative Titles
Full title
NF1 single and multi-exons copy number variations in neurofibromatosis type 1
Authors, Artists and Contributors
Author / Creator
the members of the NF France Network
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1683349439
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1683349439
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2015.6
