Associated Papers
PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.
Zeng F et al.
Metabolites, 2022
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
Li L et al.
Molecular Genetics & Genomic Medicine, 2020
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