Associated Papers
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia
Ahangari N et al.
Iranian Biomedical Journal, 2021
A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
Nikasa P et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
Canizales-Quinteros S et al.
Human Genetics, 2005
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