Concepedia

A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms

Io Kato, Yuki Takagi, Yuki Nakamura, Moe Murata, Akira Takagi, Takashi Murate, Tadashi Matsushita, Tadaaki Nakashima, Tetsuhito Kojima

International Journal of Hematology · 2014 · 14 citations · 14 references

DOI

Concepts

References

14

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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Inherited Antithrombin Deficiency Causing Thrombophilia

O. Egeberg · Thrombosis and Haemostasis · 1965 · 1K citations

, , +15

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 907 citations · Full text

, , +13

A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity

Carola G. Vinuesa, Matthew Cook, Constanza Angelucci et al. · Nature · 2005 · 858 citations

, , +14

Mechanisms for human genomic rearrangements

Wenli Gu, Feng Zhang, James R. Lupski · PathoGenetics · 2008 · 719 citations · Full text

, , +13