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SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Echaniz-Laguna, Andoni

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. [electronic resource] - Neurology Oct 2013 - 1523-30 p. digital

Publication Type: Journal Article

ISSN: 1526-632X

Standard No.: 10.1212/WNL.0b013e3182a4a518 doi

Subjects--Topical Terms:
Adult
Age of Onset
Charcot-Marie-Tooth Disease--genetics
Child, Preschool
Consanguinity
Female
Homozygote
Humans
Male
Membrane Proteins--deficiency
Middle Aged
Mitochondrial Proteins--deficiency
Mutation--genetics
Pedigree
Phenotype
RNA Splicing--genetics

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