The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Baser, M E

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. [electronic resource] - Journal of medical genetics Jul 2005 - 540-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review

1468-6244

10.1136/jmg.2004.029504 doi


Alternative Splicing--genetics
Animals
Databases, Genetic
Female
Genotype
Humans
Male
Mutation--genetics
Neurofibromatosis 2--genetics
Neurofibromin 2--genetics
Phenotype
Severity of Illness Index
Survival Analysis