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. Author manuscript; available in PMC: 2013 Aug 5.
Published in final edited form as: Blood Rev. 2010 Apr 24;24(3):101–122. doi: 10.1016/j.blre.2010.03.002

Table 4.

Mutated Genes in the Major IBMFS

E) Severe Congenital Neutropenia

Gene MIM #* Locus Mutations ~% of Patients Genetics
ELA-2/ELANE 202700 19p13.3 75 60 AD
GFI1 613107 1p22 2 <1 AD
HAX1 610738 1q21.3 ~10 1 AR
WAS 300299 Xp11.33–11.22 3 <1 XLR
G6PC3 612541 17q21.31 4 <1 AR
*

OMIM155