Concepedia

A novel splicing mutation causes analbuminemia in a Portuguese boy

Gianluca Caridi, Monica Dagnino, Marco Di Duca, Helena Pinto, Maria do Céu Espinheira, António Guerra, Susana Fernandes, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti

Molecular Genetics and Metabolism · 2011 · 13 citations · 23 references

DOI

Concepts

References

23

A catalogue of splice junction sequences

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

, , +14

Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4.

Phillip P. Minghetti, Duane E. Ruffner, Wenhuan Kuang et al. · Journal of Biological Chemistry · 1986 · 298 citations · Full text

, , +17

Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Igor Vořechovský · Nucleic Acids Research · 2006 · 204 citations · Full text

, , +17

Analbuminemia: three cases resulting from different point mutations in the albumin gene.

S Watkins, J Madison, Monica Galliano et al. · Proceedings of the National Academy of Sciences · 1994 · 75 citations

, , +13

Mutations and polymorphisms of the gene of the major human blood protein, serum albumin

Lorenzo Minchiotti, Monica Galliano, Ulrich Kragh‐Hansen et al. · Human Mutation · 2008 · 71 citations

, , +15