Associated Papers
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients.
Mao W et al.
Peerj, 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Autosomal recessive hypercholesterolemia: update for 2020.
D'Erasmo L et al.
Current Opinion in Lipidology, 2020
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK et al.
Nature Clinical Practice. Cardiovascular Medicine, 2007
Molecular mechanisms of autosomal recessive hypercholesterolemia.
Wilund KR et al.
Human Molecular Genetics, 2002
Case reports of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition nonresponse.
Saeed A et al.
Journal of Clinical Lipidology, 0
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