FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Corrigendum to “FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia” [Atherosclerosis 151 (2000) 525–534]

Atherosclerosis ◽

10.1016/s0021-9150(02)00186-7 ◽

2003 ◽

Vol 167 (1) ◽

pp. 173

Author(s):

Markus S. Nauck ◽

Hubert Scharnagl ◽

Henrik Nissen ◽

Christine Schürmann ◽

Dietrich Matern ◽

...

Keyword(s):

Growth Factor ◽

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Identification of a New Mutation, S305C, in Exon 7 of the Low-Density Lipoprotein Receptor Gene in a Brazilian Family with Homozygous Familial Hypercholesterolemia

Genetic Testing ◽

10.1089/109065703321560994 ◽

2003 ◽

Vol 7 (1) ◽

pp. 77-79 ◽

Cited By ~ 2

Author(s):

Laura van de Kerkhof ◽

Silvia J. Van Eijk ◽

Joep C. Defesche ◽

José-Ernesto Dos-Santos

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

New Mutation ◽

Three mutations including two deletions of the low density lipoprotein receptor gene in Japanese patients with homozygous familial hypercholesterolemia.

Japanese Journal of Medicine ◽

10.2169/internalmedicine1962.28.661 ◽

1989 ◽

Vol 28 (5) ◽

pp. 661-662

Author(s):

Tohru FUNAHASHI ◽

Yasuko MIYAKE ◽

Akira YAMAMOTO

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Japanese Patients ◽

Low Density ◽

Lipoprotein Receptor ◽

Symposium on recent trend in the research of hyperlipidemia in Japan. Three mutations including two deletions of the low density lipoprotein receptor gene in Japanese patients with homozygous familial hypercholesterolemia.

Nihon Naika Gakkai Zasshi ◽

10.2169/naika.78.1406 ◽

1989 ◽

Vol 78 (10) ◽

pp. 1406-1407

Author(s):

Tohru FUNAHASHI ◽

Yasuko MIYAKE ◽

Akira YAMAMOTO

Keyword(s):

Recent Trend ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Japanese Patients ◽

Low Density ◽

Lipoprotein Receptor ◽

Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C→T mutation of low-density lipoprotein receptor gene

Chinese Medical Journal ◽

10.1097/00029330-200805010-00002 ◽

2008 ◽

Vol 121 (9) ◽

pp. 776-781 ◽

Cited By ~ 5

Author(s):

Jie LIN ◽

Lu-ya WANG ◽

Shu LIU ◽

Jun-hui XIA ◽

Qiang YONG ◽

...

Keyword(s):

Functional Analysis ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.86.11.4166 ◽

1989 ◽

Vol 86 (11) ◽

pp. 4166-4170 ◽

Cited By ~ 61

Author(s):

A. K. Soutar ◽

B. L. Knight ◽

D. D. Patel

Keyword(s):

Growth Factor ◽

Ligand Binding ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Intracellular Movement ◽

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

Human Genetics ◽

10.1007/bf00222714 ◽

1993 ◽

Vol 91 (2) ◽

pp. 141-147 ◽

Cited By ~ 25

Author(s):

Eran Leitersdorf ◽

Ayeleth Reshef ◽

Vardiella Meiner ◽

Eldad J. Dann ◽

Yitzhak Beigel ◽

...

Keyword(s):

Missense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Sephardic Jews ◽

A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia

Clinical Genetics ◽

10.1034/j.1399-0004.2001.590414.x ◽

2001 ◽

Vol 59 (4) ◽

pp. 290-292 ◽

Cited By ~ 2

Author(s):

M Takahashi ◽

U Ikeda ◽

S Takahashi ◽

H Hattori ◽

T Iwasaki ◽

...

Keyword(s):

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Exon 2 ◽

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein–receptor gene in young patients with homozygous familial hypercholesterolemia

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2015.12.016 ◽

2016 ◽

Vol 10 (3) ◽

pp. 538-546.e5 ◽

Cited By ~ 6

Author(s):

Long Jiang ◽

Li-Yuan Sun ◽

Xiao-Dong Pan ◽

Pan-Pan Chen ◽

Ling Tang ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Young Patients ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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 ◽

Proprotein Convertase ◽