Concepedia

Intronic mutations outside of Alu -repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

Sabine Amsellem, Dorothée Briffaut, Alain Carrié, Jean‐Pierre Rabès, Jean Girardet, A. Fredenrich, Philippe Moulin, Michel Krempf, Yves Reznik, B. Vialettes,

Human Genetics · 2002 · 104 citations · 46 references

DOI

Concepts

References

46

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

, , +10

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations

, , +11

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

, , +17

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

, , +12

The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

Thomas C. Südhof, Joseph L. Goldstein, Michael S. Brown et al. · Science · 1985 · 854 citations · Full text

, , +12