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Paper Details

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Mol Genet Genomic Med
18
2014
(1)-pyrroline-5-carboxylate, (1)-pyrroline-5-carboxylate synthase, ALDH18A1, Autosomal recessive cutis laxa type 3A, C, Patient, Warburg Micro syndrome, autosomal recessive cutis laxa type 3A, fibroblasts, patient
Author NameAffiliation
Alison MeynertInstitute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh
Martin S TaylorInstitute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh
Martin S TaylorInstitute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh
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Release 1.2