共 50 条
- [41] Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis AMERICAN JOURNAL OF PATHOLOGY, 2009, 174 (03): : 970 - 978
- [45] Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction Cell and Tissue Research, 2013, 351 : 281 - 288
- [49] A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (05):