Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

作者:Santoro Claudia; Maietta Anna; Giugliano Teresa; Melis Daniela; Perrotta Silverio; Nigro Vincenzo; Piluso Giulio*
来源:European Journal of Human Genetics, 2015, 23(11): 1460-1461.
DOI:10.1038/ejhg.2015.93