Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation

De Novo ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Compound Heterozygous ◽

Low Density ◽

Lipoprotein Receptor ◽

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.22.10526 ◽

1994 ◽

Vol 91 (22) ◽

pp. 10526-10530 ◽

Cited By ~ 63

Author(s):

U. M. Koivisto ◽

J. J. Palvimo ◽

O. A. Janne ◽

K. Kontula

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Base Substitution ◽

Low Density ◽

Lipoprotein Receptor ◽

Single Base ◽

A case of heterozygous familial hypercholesterolemia associated with hyperthyroidism: Effects of triiodothyronine on low-density lipoprotein receptor and cholesterol synthesis

Metabolism ◽

10.1016/0026-0495(83)90059-8 ◽

1983 ◽

Vol 32 (12) ◽

pp. 1129-1132 ◽

Cited By ~ 5

Author(s):

Toshihiro Haba ◽

Yasuyuki Sakai ◽

Junji Koizumi ◽

Susumu Miyamoto ◽

Hiroshi Mabuchi ◽

...

Keyword(s):

Cholesterol Synthesis ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

A rare low-density lipoprotein receptor (LDLR) gene mutation associated with heterozygous familial hypercholesterolemia

Clinica Chimica Acta ◽

10.1016/j.cca.2019.03.427 ◽

2019 ◽

Vol 493 ◽

pp. S205-S206

Author(s):

M. Ortiz Espejo ◽

R. Batanero Maguregui ◽

C. Montalban Carrasco ◽

M. Piedra León ◽

R. García Sardina ◽

...

Keyword(s):

Gene Mutation ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Ldlr Gene ◽

Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2019.0012 ◽

2019 ◽

Vol 23 (6) ◽

pp. 401-408 ◽

Cited By ~ 1

Author(s):

Shitong Cheng ◽

Yue Wu ◽

Wenhui Wen ◽

Minghui An ◽

Yang Gao ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/humu.1380040203 ◽

1994 ◽

Vol 4 (2) ◽

pp. 102-113 ◽

Cited By ~ 22

Author(s):

Henrik K. Jensen ◽

Thomas G. Jensen ◽

Lillian G. Jensen ◽

Peter S. Hansen ◽

Margrethe Kjeldsen ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Elevated Plasma PCSK9 Level Is Equally Detrimental for Patients With Nonfamilial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia, Irrespective of Low-Density Lipoprotein Receptor Defects

Journal of the American College of Cardiology ◽

10.1016/j.jacc.2014.02.538 ◽

2014 ◽

Vol 63 (22) ◽

pp. 2365-2373 ◽

Cited By ~ 43

Author(s):

Gilles Lambert ◽

Francine Petrides ◽

Mathias Chatelais ◽

Dirk J. Blom ◽

Benjamin Choque ◽

...

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Elevated Plasma ◽

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(1997)9:5<437::aid-humu10>3.0.co;2-3 ◽

1997 ◽

Vol 9 (5) ◽

pp. 437-444 ◽

Cited By ~ 20

Author(s):

Henrik K. Jensen ◽

Thomas G. Jensen ◽

Ole Faergeman ◽

Lillian G. Jensen ◽

Brage S. Andresen ◽

...

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Receptor Function ◽

Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia

Brazilian Journal of Medical and Biological Research ◽

10.1590/s0100-879x2000001100006 ◽

2000 ◽

Vol 33 (11) ◽

pp. 1301-1304 ◽

Cited By ~ 8

Author(s):

L.A. Salazar ◽

S.A. Cavalli ◽

M.H. Hirata ◽

J. Diament ◽

N. Forti ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Confirmation Of Pathogenicity Of A Rare Low Density Lipoprotein Receptor Mutation Causing Homozygous And Heterozygous Familial Hypercholesterolemia (Fh)

Atherosclerosis ◽

10.1016/j.atherosclerosis.2019.06.630 ◽

2019 ◽

Vol 287 ◽

pp. e207

Author(s):

T. Turner ◽

E. Stein ◽

E.M. Bahassi

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Circulating Soluble Low Density Lipoprotein Receptor Levels in Heterozygous Familial Hypercholesterolemia Subjects Before and After Statin Therapy

Atherosclerosis Supplements ◽

10.1016/j.atherosclerosissup.2018.04.182 ◽

2018 ◽

Vol 32 ◽

pp. 60-61

Author(s):

Teik C. Ooi ◽

Daniel Gaudet ◽

Diane Brisson ◽

Lioudmila Tepliakova ◽

Daniel Figeys ◽

...

Keyword(s):

Statin Therapy ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Before And After ◽