Open AccessA Novel Deep Intronic Mutation Introducing a Cryptic Exon Causing Neurofibromatosis Type 1 in a Family with Highly Variable Phenotypes: A Case Study
Author(s) -
Eva K. Svaasand
Publication year - 2015
Publication title -
hereditary genetics
Language(s) - English
Resource type - Journals
ISSN - 2161-1041
DOI - 10.4172/2161-1041.1000152
Subject(s) - genetics , phenotype , exon , neurofibromatosis , biology , mutation , gene