Detalhe da pesquisa
1.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genet Med
; 24(2): 293-306, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906454
2.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35507016
3.
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Hum Mutat
; 39(11): 1631-1640, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311388
4.
Mutation detection in Croatian patients with familial hypercholesterolemia.
Ann Hum Genet
; 77(1): 22-30, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23130880
5.
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Ann Hum Genet
; 76(5): 387-401, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22881376
6.
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
J Am Coll Cardiol
; 72(6): 662-680, 2018 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30071997
7.
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Atherosclerosis
; 229(1): 161-8, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23669246
8.
Commentary PCSK9 variants: A new database.
Atherosclerosis
; 203(1): 32-3, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19249440