Li, Jun

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