Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates

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

Life Sciences, Genetics, Molecular Genetics +17

Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

A Agostoni, Emel Aygören‐Pürsün, Karen Binkley et al. · Journal of Allergy and Clinical Immunology · 2004 · 643 citations · Full text

Life Sciences, Immunology, Pharmacology +10

An mRNA Surveillance Mechanism That Eliminates Transcripts Lacking Termination Codons

Pamela A. Frischmeyer, Ambro van Hoof, Kathryn A. O’Donnell et al. · Science · 2002 · 573 citations

Life Sciences, Biochemistry, Molecular Biology +17

Phylogeny of the Serpin Superfamily: Implications of Patterns of Amino Acid Conservation for Structure and Function

James A. Irving · Genome Research · 2000 · 555 citations

Life Sciences, Evolutionary Biology, Molecular Biology +17

Statistical features of human exons and their flanking regions

Michael Zhang · Human Molecular Genetics · 1998 · 464 citations

Life Sciences, Genetics, Molecular Genetics +13