Concepedia

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A

Rosa Santacroce, Maura Acquila, Donata Belvini, Giuseppe Castaldo, Isabella Garagiola, Sofia H. Giacomelli, Anna Maria Lombardi, Barbara Minuti, Federica Riccardi, Roberta Salviato,

Journal of Human Genetics · 2008 · 45 citations · 13 references

DOI

Concepts

References

13

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Characterization of the human factor VIII gene

Jane Gitschier, William I. Wood, Therese M. Goralka et al. · Nature · 1984 · 995 citations

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Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.

G C White, Frits R. Rosendaal, Louis M. Aledort et al. · PubMed · 2001 · 803 citations

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Definitions in Hemophilia

Frits R. Rosendaal, Louis M. Aledort, Jeanne M. Lusher et al. · Thrombosis and Haemostasis · 2001 · 771 citations

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A

Richard D. Bagnall, Naushin Waseem, Peter M. Green et al. · Blood · 2002 · 405 citations · Full text

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