Sprecher, Eli <br/><br/>
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] 

 -  American journal of human genetics  Aug 2005 
 - 242-51 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/432556  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Antigens, Polyomavirus Transforming--metabolism<br/>Biopsy<br/>Blotting, Western<br/>Brain--abnormalities<br/>Brain Diseases--genetics<br/>Cell Differentiation<br/>Cell Proliferation<br/>Chromosome Mapping<br/>DNA Mutational Analysis<br/>Epidermis--metabolism<br/>Family Health<br/>Female<br/>Fibroblasts--cytology<br/>Genotype<br/>Haplotypes<br/>Homozygote<br/>Humans<br/>Ichthyosis--genetics<br/>Immunohistochemistry<br/>Keratoderma, Palmoplantar--genetics<br/>Male<br/>Microsatellite Repeats<br/>Microscopy, Electron, Transmission<br/>Microscopy, Immunoelectron<br/>Models, Genetic<br/>Mutation<br/>Nervous System Malformations--genetics<br/>Oligonucleotides--genetics<br/>Protein Transport<br/>Qb-SNARE Proteins<br/>Qc-SNARE Proteins<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Sequence Analysis, DNA<br/>Syndrome<br/>Vesicular Transport Proteins--genetics