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

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

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

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
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