A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
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PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.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.
P2860
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 21 December 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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A novel missense variant in th ...... three consanguineous families.
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A novel missense variant in th ...... three consanguineous families.
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label
A novel missense variant in th ...... three consanguineous families.
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A novel missense variant in th ...... three consanguineous families.
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A novel missense variant in th ...... three consanguineous families.
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A novel missense variant in th ...... three consanguineous families.
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P2093
P2860
P356
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A novel missense variant in th ...... three consanguineous families
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D A Nicekrson
J Shendure
M J Bamshad
P2860
P304
P356
10.1111/JDV.13540
P577
2015-12-21T00:00:00Z