Concepedia

A novel mutation in EROS (CYBC1) causes chronic granulomatous disease

Paige M Mortimer, Esme Nichols, Joe Thomas, Rachna Shanbhag, Neha Singh, Eve L. Coomber, Talat H. Malik, Matthew C. Pickering, Lyra O. Randzavola, William Rae,

Clinical Immunology · 2023 · 19 citations · 15 references

DOI

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References

15

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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Chronic Granulomatous Disease: The European Experience

J. Merlijn van den Berg, Elsbeth van Koppen, Anders Åhlin et al. · PLoS ONE · 2009 · 684 citations · Full text

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A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Juan D. Matute, Andrés A. Arias, Nicola Wright et al. · Blood · 2009 · 415 citations · Full text

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Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

Robert Chiesa, Junfeng Wang, Henric-Jan Blok et al. · Blood · 2020 · 162 citations · Full text

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Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Francesca Conti, Saúl Oswaldo Lugo Reyes, Lizbeth Blancas‐Galicia et al. · Journal of Allergy and Clinical Immunology · 2016 · 144 citations · Full text

, , +16