Associated Papers
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.
Doss CG et al.
Cell Biochemistry and Biophysics, 2014
Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
Warby CA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Méndez M et al.
The British Journal of Dermatology, 2007
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
Poblete-Gutiérrez P et al.
Experimental Dermatology, 2004
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips JD et al.
Blood, 2001
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M et al.
American Journal of Human Genetics, 1998
Select a paper to view details