Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.
Lundén, Lina
Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. [electronic resource] - British journal of haematology Nov 2009 - 587-90 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1365-2141
10.1111/j.1365-2141.2009.07866.x doi
Base Sequence
Child
DNA Mutational Analysis--methods
Granulocyte Colony-Stimulating Factor--therapeutic use
Humans
Leukocyte Elastase--genetics
Male
Mutation, Missense
Neutropenia--genetics
Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. [electronic resource] - British journal of haematology Nov 2009 - 587-90 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1365-2141
10.1111/j.1365-2141.2009.07866.x doi
Base Sequence
Child
DNA Mutational Analysis--methods
Granulocyte Colony-Stimulating Factor--therapeutic use
Humans
Leukocyte Elastase--genetics
Male
Mutation, Missense
Neutropenia--genetics