| 1 | CTSG, ELA2, ELANE, ELN, PRTN3
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| Human leukocyte elastase hydrolysis of peptides derived from human elastin exon 24.
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| Lombard C, Arzel L, Bouchu D, Wallach J, Saulnier J.
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| Biochimie 88(12):1915-21. Epub 2006 Aug 10. 2006
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| 2 | ELA2, ELANE, SCNP1
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| Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
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| Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J.
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| Blood 103(11):4119-25. Epub 2004 Feb 12. 2004
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| 3 | ELA2, ELANE, NOTCH2NLC
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| A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
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| Duan Z, Li FQ, Wechsler J, Meade-White K, Williams K, Benson KF, Horwitz M.
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| Mol Cell Biol 24(1):58-70. 2004
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| 4 | ELA2, ELANE, GFI1, SCNP2
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| Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
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| Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M.
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| Nat Genet 34(3):308-12. 2003
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| 5 | ELA2, ELANE
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| Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
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| Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M.
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| Nat Genet 35(1):90-6. Epub 2003 Aug 03. 2003
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| 6 | ELA2, ELANE, SCNP1
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| Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
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| Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC.
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| Blood 98(9):2645-50. 2001
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| 7 | ELA2, ELANE, SCNP1
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| Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
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| Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M.
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| Blood 96(7):2317-22. 2000
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| 8 | ELA2, ELANE
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| Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
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| Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.
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| Nat Genet 23(4):433-6 1999
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