A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. [electronic resource]
Producer: 20050923Description: 242-51 p. digitalISSN:- 0002-9297
- Antigens, Polyomavirus Transforming -- metabolism
- Biopsy
- Blotting, Western
- Brain -- abnormalities
- Brain Diseases -- genetics
- Cell Differentiation
- Cell Proliferation
- Chromosome Mapping
- DNA Mutational Analysis
- Epidermis -- metabolism
- Family Health
- Female
- Fibroblasts -- cytology
- Genotype
- Haplotypes
- Homozygote
- Humans
- Ichthyosis -- genetics
- Immunohistochemistry
- Keratoderma, Palmoplantar -- genetics
- Male
- Microsatellite Repeats
- Microscopy, Electron, Transmission
- Microscopy, Immunoelectron
- Models, Genetic
- Mutation
- Nervous System Malformations -- genetics
- Oligonucleotides -- genetics
- Protein Transport
- Qb-SNARE Proteins
- Qc-SNARE Proteins
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA
- Syndrome
- Vesicular Transport Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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