Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations. [electronic resource]
- Human genetics Aug 1996
- 203-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/s004390050191 doi
Adolescent Adult Base Sequence Child Child, Preschool DNA--genetics Female Frameshift Mutation Genes, Neurofibromatosis 2 Humans Male Middle Aged Molecular Sequence Data Mutation Neurofibromatosis 2--genetics Pedigree Phenotype RNA Splicing--genetics