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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

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Description scientific article published on 17 January 2017
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author: Vinzenz Oji  Benedikt Weber  Franz P W Radner  Andreas Zimmer 

Publication date January 17, 2017
Language English
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