Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

LETTER TO THE EDITOR

Description of 22 new alpha-1 antitrypsin genetic variants

Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck and Philippe Joly

Orphanet Journal of Rare Diseases 2018, 13:161 | Published on: 17 September 2018

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RESEARCH

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease

Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory…

Orphanet Journal of Rare Diseases 2018, 13:152 | Published on: 17 September 2018

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