Zobrazeno 1 - 1
of 1
pro vyhledávání: '"NF2 mutation screening"'
Autor:
Maurizio Genuardi, Costanza Bacci, Claudio Orlando, Aldesia Provenzano, Laura Papi, Roberta Sestini
Publikováno v:
Genetic testing. 12(2)
Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in the NF2 gene and predisposing to the development of nervous system. Identification of germline mutations is essential to provide appropriate genetic counseling in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926bd57ae3bd0d532caa6ece6376a296
https://pubmed.ncbi.nlm.nih.gov/18554169
https://pubmed.ncbi.nlm.nih.gov/18554169
