Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. [electronic resource]
- Archives of neurology Jul 2007
- 974-8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
0003-9942
10.1001/archneur.64.7.974 doi
Adolescent Adult Aged Aged, 80 and over Child DNA Mutational Analysis Down-Regulation--genetics Electrodiagnosis Female Frameshift Mutation Genetic Markers--genetics Genetic Predisposition to Disease--genetics Genetic Testing Heredodegenerative Disorders, Nervous System--genetics Humans Leucine--genetics Male Middle Aged Myelin Proteins--biosynthesis Neural Conduction--genetics Peripheral Nerves--metabolism Peripheral Nervous System Diseases--genetics Phenotype