A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls.
Standard
A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls. / Schnittger, Susanne; Bacher, Ulrike; Eder, Christiane; Lohse, Peter; Haferlach, Claudia; Kern, Wolfgang; Haferlach, Torsten.
In: EXP HEMATOL, Vol. 39, No. 1, 1, 2011, p. 87-94.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls.
AU - Schnittger, Susanne
AU - Bacher, Ulrike
AU - Eder, Christiane
AU - Lohse, Peter
AU - Haferlach, Claudia
AU - Kern, Wolfgang
AU - Haferlach, Torsten
PY - 2011
Y1 - 2011
N2 - CEBPA-mutated normal karyotype acute myeloid leukemia (AML) has recently been included as a provisional entity in the World Health Organization classification. The CEBPA mutations are heterogeneous, including missense/nonsense base exchanges, frameshift mutations, and insertions/deletions being distributed throughout the gene. One of the genetic alterations within CEBPA (c.1175_1180dup; p.P194_H195dup) was later suggested to represent an inherited polymorphism. As this is not a simple single nucleotide polymorphism, but a six-base pair insertion that leads to a two amino acid elongation of the protein, functional implications cannot be excluded.
AB - CEBPA-mutated normal karyotype acute myeloid leukemia (AML) has recently been included as a provisional entity in the World Health Organization classification. The CEBPA mutations are heterogeneous, including missense/nonsense base exchanges, frameshift mutations, and insertions/deletions being distributed throughout the gene. One of the genetic alterations within CEBPA (c.1175_1180dup; p.P194_H195dup) was later suggested to represent an inherited polymorphism. As this is not a simple single nucleotide polymorphism, but a six-base pair insertion that leads to a two amino acid elongation of the protein, functional implications cannot be excluded.
M3 - SCORING: Zeitschriftenaufsatz
VL - 39
SP - 87
EP - 94
JO - EXP HEMATOL
JF - EXP HEMATOL
SN - 0301-472X
IS - 1
M1 - 1
ER -
