Citations for
1HAX1, SCNP3
Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C.
J Clin Immunol. Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2. Epub 2016 Dec 10 2017
2HAX1, SCNP3
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations
Roques G, Munzer M, Barthez MA, Beaufils S, Beaupain B, Flood T, Keren B, Bellanné-Chantelot C, Donadieu J.
Pediatr Blood Cancer. Jun;61(6):1041-8. doi: 10.1002/pbc.24964. Epub 2014 Jan 30 2014
3HAX1, SCNP3
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders
Patiroglu T, Gungor HE, Triot A, Unal E
Genet Couns. ;24(3):253-8. 2013
4HAX1, SCNP3
A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
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.
Clin Genet 76(6):569-72. Epub 2009 Oct 1. No abstract available. PMID: 19796188 2009
5HAX1, SCNP3
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
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.
J Med Genet 45(12):802-7. Epub 2008 Jul 8. 2008
6SCNP3, HAX1
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
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.
Nat Genet 39(1):86-92. Epub 2006 Dec 24. 2007
7SCNP3
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjold M, Palmblad J, Henter JI, Dahl N.
Biochem Biophys Res Commun 353(3):571-5. Epub 2006 Dec 20. 2007