Publications:

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov

Publication Date: 2021-01

Variant appearance in text: LDLR: 888C>A; Cys296*; rs879254708

PubMed Link: 33269076

Variant Present in the following documents:

• Main text

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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology

AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan

Publication Date: 2016-06-07

Variant appearance in text: LDLR: Cys296Ter

PubMed Link: 27050191

Variant Present in the following documents:

• NIHMS853613-supplement-Appendix.docx

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Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine

C Maglio, RM Mancina, BM Motta, M Stef, C Pirazzi, L Palacios, N Askaryar, J Borén, O Wiklund, S Romeo

Publication Date: 2014-10

Variant appearance in text: LDLR: Cys296x

PubMed Link: 24785115

Variant Present in the following documents:

• joim0276-0396-sd1.doc

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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries

Publication Date: 2013-06-05

Variant appearance in text: LDLR: C296X

PubMed Link: 23535506

Variant Present in the following documents:

• Main text

View BVdb publication page

Alternative transcript annotations: