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Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
Authors:Carlsson G  van't Hooft I  Melin M  Entesarian M  Laurencikas E  Nennesmo I  Trebińska A  Grzybowska E  Palmblad J  Dahl N  Nordenskjöld M  Fadeel B  Henter J-I
Affiliation:Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden. goran.carlsson@ki.se
Abstract:
Keywords:autosomal recessive  central nervous system  HAX‐1  Kostmann disease  severe congenital neutropenia  splice variant expression
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