Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. [electronic resource]
Producer: 20160129Description: 2771-83 p. digitalISSN:- 1460-2083
- Animals
- Child, Preschool
- Down-Regulation
- Dwarfism -- genetics
- Endoplasmic Reticulum, Rough -- metabolism
- Female
- Golgi Apparatus -- metabolism
- Humans
- Infant
- Intellectual Disability -- genetics
- Intracellular Signaling Peptides and Proteins
- Male
- Membrane Proteins -- genetics
- Mice
- Mice, Mutant Strains
- Microcephaly -- genetics
- Mutation
- Myelin Sheath -- genetics
- Osteochondrodysplasias -- congenital
- Protein Transport -- genetics
- Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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