FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation

Frameshift Mutations ◽

Exon 10 ◽

Heteroduplex Formation

Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation ? FH469?Stop

Human Genetics ◽

10.1007/bf00216137 ◽

1993 ◽

Vol 92 (1) ◽

pp. 6-10 ◽

Cited By ~ 7

Author(s):

Trond P. Leren ◽

Kari Solberg ◽

Olaug K. R�dningen ◽

Oddveig R�sby ◽

Serena Tonstad ◽

...

Keyword(s):

Nonsense Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Point Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Exon 10

A new informativeAlw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis

Human Mutation ◽

10.1002/(sici)1098-1004(1998)11:6<483::aid-humu17>3.0.co;2-5 ◽

1998 ◽

Vol 11 (6) ◽

pp. 483-483 ◽

Cited By ~ 2

Author(s):

Marie-Laure Kottler ◽

Jean Pierre Lagarde ◽

Karin Dahan ◽

Leila Zekraoui ◽

Alain Raisonnier

Keyword(s):

Prenatal Diagnosis ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Exon 10

Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms

Human Genetics ◽

10.1007/bf00191796 ◽

1995 ◽

Vol 96 (4) ◽

pp. 401-406 ◽

Cited By ~ 3

Author(s):

Armand V. Peeters ◽

Luc F. Van Gaal ◽

Leonora Theart ◽

Elzet Langenhoven ◽

Maritha J. Kotze

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Frameshift Mutations ◽

Endogenous Sequence

Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene

Human Genetics ◽

10.1007/bf00220563 ◽

1992 ◽

Vol 89 (3) ◽

Cited By ~ 8

Author(s):

L. Warnich ◽

M.J. Kotze ◽

E. Langenhoven ◽

A.E. Retief

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Exon 10

Regulation of low density lipoprotein receptor gene expression in HepG2 and Caco2 cells by palmitate, oleate, and 25-hydroxycholesterol

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)39730-3 ◽

1995 ◽

Vol 36 (7) ◽

pp. 1434-1446

Author(s):

R A Srivastava ◽

H Ito ◽

M Hess ◽

N Srivastava ◽

G Schonfeld

Keyword(s):

Gene Expression ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Caco2 Cells ◽

Receptor Gene Expression

The somatic cell-specific low density lipoprotein receptor-related protein of the chicken. Close kinship to mammalian low density lipoprotein receptor gene family members.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)42336-2 ◽

1994 ◽

Vol 269 (1) ◽

pp. 212-219 ◽

Cited By ~ 2

Author(s):

J. Nimpf ◽

S. Stifani ◽

P.T. Bilous ◽

W.J. Schneider

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Related Protein ◽

Lipoprotein Receptor Related Protein ◽

Receptor Gene Family

Low-density lipoprotein receptor gene transfer in hypercholesterolemic mice improves cardiac function after myocardial infarction

Gene Therapy ◽

10.1038/gt.2011.147 ◽

2011 ◽

Vol 19 (8) ◽

pp. 860-871 ◽

Cited By ~ 21

Author(s):

E Van Craeyveld ◽

F Jacobs ◽

S C Gordts ◽

B De Geest

Keyword(s):

Myocardial Infarction ◽

Gene Transfer ◽

Cardiac Function ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor

1.P.274 Identification of a new mutation in exon 4 of the low density lipoprotein receptor gene in patients with familial hypercholesterolemia in Spain

Atherosclerosis ◽

10.1016/s0021-9150(97)88452-3 ◽

1997 ◽

Vol 134 (1-2) ◽

pp. 74

Author(s):

J.C. Vallvé ◽

C. Alonso-Villaverde ◽

J. Margalef ◽

J. Ribalta ◽

L. Masana

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

New Mutation ◽

Exon 4

Homozygous mutations of low-density lipoprotein receptor gene in a family with familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.06.549 ◽

2018 ◽

Vol 275 ◽

pp. e180

Author(s):

A. AL-Khateeb ◽

N.A. Mohd Kasim ◽

Y.A. Chua ◽

S.N.F. Ismail ◽

L.K. The ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Mutations

UPDATE AND ANALYSIS OF THE UCL LOW DENSITY LIPOPROTEIN RECEPTOR GENE (LDLR) FAMILIAL HYPERCHOLESTEROLEMIA (FH) DATABASE

Atherosclerosis Supplements ◽

10.1016/s1567-5688(08)70432-x ◽

2008 ◽

Vol 9 (1) ◽

pp. 107-108 ◽

Cited By ~ 1

Author(s):

S.E. Leigh ◽

R.A. Whittall ◽

C.S. Hubbart ◽

S.E. Humphries

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor