1 | HAX1, SCNP3
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| Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
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| Klein C.
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| J Clin Immunol. Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2. Epub 2016 Dec 10 2017
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2 | HAX1, SCNP3
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| Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations
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| Roques G, Munzer M, Barthez MA, Beaufils S, Beaupain B, Flood T, Keren B, Bellanné-Chantelot C, Donadieu J.
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| Pediatr Blood Cancer. Jun;61(6):1041-8. doi: 10.1002/pbc.24964. Epub 2014 Jan 30 2014
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3 | HAX1, SCNP3
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| Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders
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| Patiroglu T, Gungor HE, Triot A, Unal E
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| Genet Couns. ;24(3):253-8. 2013
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4 | HAX1, SCNP3
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| A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
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| Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, Toulimat M, Al-Muallimi MA, Pulicat MS, Gaafar A, Alaiya AA, Al-Dayel F, Peltekova I, Zaidi SH.
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| Clin Genet 76(6):569-72. Epub 2009 Oct 1. No abstract available. PMID: 19796188 2009
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5 | HAX1, SCNP3
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| Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
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| Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.
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| J Med Genet 45(12):802-7. Epub 2008 Jul 8.
2008
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6 | SCNP3, HAX1
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| HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
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| Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K.
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| Nat Genet 39(1):86-92. Epub 2006 Dec 24. 2007
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7 | SCNP3
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| Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
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| Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjold M, Palmblad J, Henter JI, Dahl N.
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| Biochem Biophys Res Commun 353(3):571-5. Epub 2006 Dec 20. 2007
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