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Clinical Lipidology and Metabolic Disorders Volume 14, 2019 - Issue 1
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A case of familial hypercholesterolemia caused by homozygous deletion in the LDLR gene diagnosed by targeted next-generation sequencing

Rashida Patanwala MelinkeriDepartment of Medicine, KEM Hospital, Pune, India;Department of Medicine, Sahyadri Speciality Hospitals, Pune, IndiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-0518-0787
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Meenal AgarwalDepartment of Medical Genetics, GenePath Diagnostics India Private Ltd, Pune, India;Genetics Department, I-SHARE Foundation, Pune, IndiaORCID Iconhttps://orcid.org/0000-0001-8665-6075
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Siddharth AnandDepartment of Medical Genetics, GenePath Diagnostics India Private Ltd, Pune, India;Genetics Department, I-SHARE Foundation, Pune, IndiaORCID Iconhttps://orcid.org/0000-0001-6075-2093
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Vishal A. SawantDepartment of Medicine, Sahyadri Speciality Hospitals, Pune, India
&
Ritu SinglaDepartment of Dermatology, Kings Mill Hospital, Nottinghamshire, UK
Pages 11-16 | Received 27 May 2019, Accepted 13 Sep 2019, Published online: 30 Sep 2019

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