Concepedia

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Patrick Couture, Marie‐Claude Vohl, Claude Gagné, Daniel Gaudet, Ana Lucía Torres-Castillo, Paul J. Lupien, Jean‐Pierre Després, Fernand Labrie, Jacques Simard, Sital Moorjani

Human Mutation · 1998 · 32 citations · 12 references

DOIFull text

Open access

Concepts

References

12

The Metabolic Basis of Inherited Diseases

R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations

, , +15

The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA

Tokuo Yamamoto, Christopher G. Davis, Michael S. Brown et al. · Cell · 1984 · 1.4K citations

, , +11

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

, , +14

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

L. F. SORIA, E H Ludwig, Howard R. G. Clarke et al. · Proceedings of the National Academy of Sciences · 1989 · 636 citations · Full text

, , +16

Deletion in Cysteine-Rich Region of LDL Receptor Impedes Transport to Cell Surface in WHHL Rabbit

Tokuo Yamamoto, Richard W. Bishop, Michael S. Brown et al. · Science · 1986 · 334 citations

, , +17