Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
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Nucleic Acids Research, 2024
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Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM et al.
International Journal of Neonatal Screening, 2023
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Chi H et al.
Molecular Genetics & Genomic Medicine, 2023
36369907 (PubMed )
Supplement: MGG3-11-e2090-s001.xlsx › Sheet1
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
35800472 (PubMed )
Supplement: mmc4.docx
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
St-Louis M et al.
Human Mutation, 1997
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