Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations.

Mautner, V F

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