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Results: 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
Authors: Sprecher, Eli Ishida-Yamamoto, Akemi Miizrahi-Koren, Mordechai Rapaport, Debora Goldsher, Dorit Indelman, Margarita Topaz, Orit Chefetz, Ilana Keren, Hanni O'Brien, Timothy J. Bercovich, Dani Shalev, Stavit Geiger, Dan Bergman, Reuven Horowitz, Mia Mandel, Hanna
Citation: Sprecher, Eli et al., 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, American journal of human genetics , 77(2), 2005, pp. 242-251
Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase
Authors: Basel-Vanagaite, Lina Attia, Revital Ishida-Yamamoto, Akemi Rainshtein, Limor Amitai, Dan Ben Lurie, Raziel Pasmanik-Chor, Metsada Indelman, Margarita Zvulunov, Alex Saban, Shirley Magal, Nurit Sprecher, Eli Shohat, Mordechai
Citation: Basel-vanagaite, Lina et al., Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase, American journal of human genetics , 80(3), 2007, pp. 467-477
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