Concepedia

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Stephen G. Kaler, Linda K. Gallo, Virginia K. Proud, Alan K. Percy, Yvonne Mark, Neil A. Segal, David S. Goldstein, Courtney Holmes, William A. Gahl

Nature Genetics · 1994 · 265 citations · 25 references

DOI

Concepts

References

25

A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

, , +14

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens et al. · Nature Genetics · 1993 · 2K citations

, , +7

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

, , +8

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