Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis-Reference-Cited by-同舟云学术

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

Published:2019-10-16 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wong Karen H.Y.¹^ORCID,Levy‐Sakin Michal¹,Ma Walfred¹,Gonzaludo Nina¹,Mak Angel C.Y.¹²,Vaka Dedeepya³,Poon Annie³,Chu Catherine³,Lao Richard³,Balamir Melek⁴,Grenville Zoe¹,Wong Nicolas¹,Kane John P.¹⁵⁶,Kwok Pui‐Yan¹³⁷,Malloy Mary J.¹⁵⁸,Pullinger Clive R.¹⁹

Affiliation:

1. Cardiovascular Research Institute University of California San Francisco CA USA

2. Lung Biology Center University of California San Francisco CA USA

3. Institute for Human Genetics University of California San Francisco CA USA

4. Department of Internal Medicine Istanbul University Istanbul Turkey

5. Department of Medicine University of California San Francisco CA USA

6. Department of Biochemistry and Biophysics University of California San Francisco CA USA

7. Department of Dermatology University of California San Francisco CA USA

8. Department of Pediatrics University of California San Francisco CA USA

9. Department of Physiological Nursing University of California San Francisco CA USA

Funder

Frank A. Campini Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1007

Reference39 articles.

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2. Functional mutations of the ABCA1 gene in subjects of French–Canadian descent with HDL deficiency

3. Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

4. Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

5. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

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