Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations

Molecular Basis ◽

Gene Mutations ◽

Molecular basis of familial hypercholesterolemia in Brazil: Identification of nine novel LDLR gene mutations

Atherosclerosis Supplements ◽

10.1016/s1567-5688(02)80621-3 ◽

2002 ◽

Vol 3 (2) ◽

pp. 200

Keyword(s):

Molecular Basis ◽

Gene Mutations ◽

Increasing the Sensitivity of Single-Strand Conformation Polymorphism Analysis of the LDLR Gene Mutations in Brazilian Patients with Familial Hypercholesterolemia

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm.2002.075 ◽

2002 ◽

Vol 40 (5) ◽

Cited By ~ 8

Author(s):

Luis A. Salazar ◽

Mario H. Hirata ◽

Rosario D.C. Hirata

Keyword(s):

Gene Mutations ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Polymorphism Analysis ◽

Ldlr Gene ◽

Conformation Polymorphism Analysis ◽

Conformation Polymorphism

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

Human Mutation ◽

10.1002/humu.1205 ◽

2001 ◽

Vol 18 (4) ◽

pp. 359-359 ◽

Cited By ~ 20

Author(s):

Jian Wang ◽

Erin Huff ◽

Lenny Janecka ◽

Robert A. Hegele

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Characterization of two low density lipoprotein receptor (LDLR) gene mutations in Tunisian familial hypercholesterolemia

Atherosclerosis Supplements ◽

10.1016/s1567-5688(02)80660-2 ◽

2002 ◽

Vol 3 (2) ◽

pp. 208

Keyword(s):

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Spectrum of LDLR gene mutations, causing familial hypercholesterolemia (FH) in Greece: Un update

Atherosclerosis ◽

10.1016/j.atherosclerosis.2020.10.213 ◽

2020 ◽

Vol 315 ◽

pp. e69

Author(s):

E. Koniari ◽

A. Skouma ◽

A. Dragoti ◽

A. Garoufi ◽

V. Maroulis ◽

...

Keyword(s):

Gene Mutations ◽

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations

Molecular and Cellular Probes ◽

10.1006/mcpr.1998.0164 ◽

1998 ◽

Vol 12 (3) ◽

pp. 149-152 ◽

Cited By ~ 5

Author(s):

Magda Callis ◽

Stander Jansen ◽

Rochelle Thiart ◽

J.Nico P. de Villiers ◽

Frederick J. Raal ◽

...

Keyword(s):

Mutation Analysis ◽

Gene Mutations ◽

MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS

Atherosclerosis Supplements ◽

10.1016/s1567-5688(08)70445-8 ◽

2008 ◽

Vol 9 (1) ◽

pp. 111 ◽

Cited By ~ 1

Author(s):

M. Chmara ◽

J. Kubalska ◽

M. Bednarska-Makaruk ◽

A. Wegrzyn ◽

E. Pronicka ◽

...

Keyword(s):

Molecular Characterization ◽

Gene Mutations ◽

Faculty Opinions recommendation of Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1115116.571098 ◽

2008 ◽

Author(s):

Eileen Dolan

Keyword(s):

Clinical Significance ◽

Molecular Basis ◽

Gene Mutations ◽

Carboxylesterase 1 ◽

Ces1 Gene

Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2020.01.009 ◽

2020 ◽

Vol 14 (2) ◽

pp. 192-196

Author(s):

Patrizia Suppressa ◽

Concetta Carbonara ◽

Natasha Scialpi ◽

Alessandro Ciavarella ◽

Carlo Sabbà

Keyword(s):

Young Woman ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Proprotein Convertase ◽

Density Lipoprotein Receptor

In-silico analysis of non- synonymous SNPs of human LDLR gene and their impact on familial hypercholesterolemia

Gene Reports ◽

10.1016/j.genrep.2021.101127 ◽

2021 ◽

pp. 101127

Author(s):

Pratik Ghosh ◽

Samarpita Ghosh ◽

Bhaskar Behera ◽

Jiban Kumar Behera ◽

Manojit Bhattacharya ◽

...

Keyword(s):

In Silico ◽

In Silico Analysis ◽

Ldlr Gene ◽

Synonymous Snps ◽

Silico Analysis