Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH)

Atherosclerosis ◽

10.1016/0021-9150(94)93460-6 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 112

Author(s):

P. Lombardi ◽

E. Sijbrands ◽

J.C. Defesche ◽

J.J.P. Kastelein ◽

R.R. Frants ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Point Mutations ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

Human Genetics ◽

10.1007/bf00201833 ◽

1991 ◽

Vol 86 (4) ◽

Author(s):

N. Lelli ◽

M. Ghisellini ◽

S. Calandra ◽

A. Gaddi ◽

A. Ciarrocchi ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene

Atherosclerosis ◽

10.1016/s0021-9150(02)00038-2 ◽

2002 ◽

Vol 163 (2) ◽

pp. 399-407 ◽

Author(s):

S. Lind ◽

E. Rystedt ◽

M. Eriksson ◽

O. Wiklund ◽

B. Angelin ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Genetic Characterization ◽

Receptor Gene ◽

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Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia

Human Genetics ◽

10.1007/bf00207391 ◽

1995 ◽

Vol 96 (2) ◽

pp. 241-242 ◽

Author(s):

TrondP. Leren ◽

Kari Solberg ◽

OlaugK. R�dningen ◽

Serena Tonstad ◽

Leiv Ose

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Point Mutations ◽

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Identification and in silico characterization of a new mutation in the LDL-receptor gene in an Omani Arab family with familial hypercholesterolemia

Atherosclerosis ◽

10.1016/j.atherosclerosis.2015.04.384 ◽

2015 ◽

Vol 241 (1) ◽

pp. e109-e110

Author(s):

Y. Banerjee

Keyword(s):

Familial Hypercholesterolemia ◽

In Silico ◽

Receptor Gene ◽

Ldl Receptor ◽

New Mutation ◽

In Silico Characterization

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Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(199910)14:4<357::aid-humu22>3.0.co;2-6 ◽

1999 ◽

Vol 14 (4) ◽

pp. 357-357 ◽

Author(s):

Kurt Widhalm ◽

Christa Iro ◽

Annabell Lindemayr ◽

Helena Schmidt ◽

Gert Kostner

Keyword(s):

Familial Hypercholesterolemia ◽

Point Mutation ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(1997)10:2<116::aid-humu4>3.0.co;2-i ◽

1997 ◽

Vol 10 (2) ◽

pp. 116-127 ◽

Author(s):

INM Day ◽

RA Whittall ◽

SD O'Dell ◽

L Haddad ◽

MK Bolla ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia

Atherosclerosis ◽

10.1016/s0021-9150(99)00158-6 ◽

1999 ◽

Vol 146 (2) ◽

pp. 337-344 ◽

Author(s):

H.K Jensen ◽

L.G Jensen ◽

H Meinertz ◽

P.S Hansen ◽

N Gregersen ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Molecular Diagnostic ◽

Diagnostic Strategy ◽

Heterozygous Familial Hypercholesterolemia

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Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?

Atherosclerosis ◽

10.1016/0021-9150(94)93818-0 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203-204 ◽

Author(s):

A.L. Torres ◽

S. Moorjani ◽

M.C. Vohl ◽

C. Gagne´ ◽

B. Lamarche ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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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 ◽

Author(s):

Henrik K. Jensen ◽

Thomas G. Jensen ◽

Lillian G. Jensen ◽

Peter S. Hansen ◽

Margrethe Kjeldsen ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Heterozygous Familial Hypercholesterolemia ◽

Density Lipoprotein Receptor

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Effects of apolipoprotein E polymorphism on LDL cholesterol concentrations in children with heterozygous familial hypercholesterolemia due to French Canadian deletion (>15 kb) in the LDL receptor gene

Atherosclerosis ◽

10.1016/0021-9150(94)93817-2 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203

Author(s):

S. Moorjani ◽

A.L. Torres ◽

M.C. Vohl ◽

J.P. Despre´s ◽

B. Lamarche ◽

...

Keyword(s):

Apolipoprotein E ◽

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

French Canadian ◽

Heterozygous Familial Hypercholesterolemia ◽

Apolipoprotein E Polymorphism

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