Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

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

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

1995 ◽  
Vol 96 (3) ◽  
pp. 319-322 ◽  
Author(s):  
Erasmo Pereira ◽  
Raoul Ferreira ◽  
Brigitte Hermelin ◽  
Ginette Thomas ◽  
Chantal Bernard ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Heterozygous Familial Hypercholesterolemia

Recurrent and novel LDL-receptor gene mutations causing heterozygote familial hypercholesterolemia in La Habana

1994 ◽  
Vol 109 (1-2) ◽  
pp. 132
Author(s):  
E. Perreira ◽  
R. Ferrera ◽  
B. Hermelin ◽  
C. Bernard ◽  
V. Bertrand ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Gene Mutations

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

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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