Associated Papers
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.
Altarescu G et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2013
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
Tse KC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2003
Abstracts of the 32nd european pancreatic club meeting
Folsch UR et al.
Digestion, 2000
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