A Mutation in SNAP29, Coding for a SNARE Protein Involved...

The American Journal of Human Genetics 2005 Vol. 77; Iss. 2

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

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J. O’Brien, Dani Bercovich, Stavit Sh
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Volume:
77
Year:
2005
Language:
english
DOI:
10.1086/432556
File:
PDF, 5.47 MB
english, 2005
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