A case of familial hypercholesterolemia caused by homozygous deletion in the LDLR gene diagnosed by targeted next-generation sequencing-Reference-Cited by-同舟云学术

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A case of familial hypercholesterolemia caused by homozygous deletion in the LDLR gene diagnosed by targeted next-generation sequencing

Published:2019-01-01 Issue:1 Volume:14 Page:11-16
ISSN:2641-5321
Container-title:Clinical Lipidology and Metabolic Disorders
language:en
Short-container-title:Clinical Lipidology and Metabolic Disorders

Author:

Melinkeri Rashida Patanwala¹²^ORCID,Agarwal Meenal³⁴^ORCID,Anand Siddharth³⁴^ORCID,Sawant Vishal A.²,Singla Ritu⁵

Affiliation:

1. Department of Medicine, KEM Hospital, Pune, India

2. Department of Medicine, Sahyadri Speciality Hospitals, Pune, India

3. Department of Medical Genetics, GenePath Diagnostics India Private Ltd, Pune, India

4. Genetics Department, I-SHARE Foundation, Pune, India

5. Department of Dermatology, Kings Mill Hospital, Nottinghamshire, UK

Publisher

Informa UK Limited

Subject

Cardiology and Cardiovascular Medicine,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/26415321.2019.1670555

Reference34 articles.

1. Kasper DL, Fauci AS, Hauser S, et al. Harrison’s principles of internal medicine. 19th ed. Vol. 2. Ch 421. 2441. New York: McGraw-Hill; 2015.

2. Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment

3. Comparison of a Novel Method vs the Friedewald Equation for Estimating Low-Density Lipoprotein Cholesterol Levels From the Standard Lipid Profile

4. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group.

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1. Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients;Genes;2022-08-10

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