Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a...

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Detalles Bibliográficos
Autores principales: Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, van Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva, Wevers, Ron A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687218/
https://www.ncbi.nlm.nih.gov/pubmed/32418222
http://dx.doi.org/10.1002/jimd.12255

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