Associated Papers
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R et al.
Atherosclerosis, 2017
Mutation detection in Chinese patients with familial hypercholesterolemia.
Du R et al.
Springerplus, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
26608663 (PubMed )
Supplement: srep17272-s1.doc
Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.
Fan LL et al.
Applied Biochemistry and Biotechnology, 2015
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