A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

Molecular Biotechnology, Natural Sciences, Genetics +8

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

Dna Analysis, Molecular Biology, Dna Heteroduplexes +17

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Lynne E. Maquat · PubMed · 1995 · 514 citations

Genetics, Rna Processing, Rna Metabolism +16

Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.

Angela M. Christiano, Daniel S. Greenspan, Seungbok Lee et al. · Journal of Biological Chemistry · 1994 · 209 citations · Full text

Genetics, Human Polymorphism, Pathology +19

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Angela M. Christiano, Daniel S. Greenspan, Guy G. Hoffman et al. · Nature Genetics · 1993 · 197 citations

Cutaneous Biology, Missense Mutation, Pathology +5