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Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia

PE Tokgun

PE Tokgun

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Tokgun, PE
, 
MT Alay

MT Alay

Department of Medical Genetics, Cerrahpaşa UniversityIstanbul, Turkey
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Alay, MT
, 
S Atli Tekin

S Atli Tekin

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Atli Tekin, S
, 
N Güler

N Güler

Department of Internal Medicine, Division of Hematology, Pamukkale UniversityDenizli, Turkey
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Güler, N
, 
O Tokgun

O Tokgun

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Tokgun, O
, 
A Demiray

A Demiray

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Demiray, A
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N Karagenc

N Karagenc

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Karagenc, N
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T Durak

T Durak

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Durak, T
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B Celik

B Celik

Department of Internal Medicine, Division of Hematology, Pamukkale UniversityDenizli, Turkey
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Celik, B
 y 
H Akca

H Akca

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Akca, H
  
23 mar 2021
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Categoría del artículo: Case report
Publicado en línea: 23 mar 2021
Páginas: 99 - 102
DOI: https://doi.org/10.2478/bjmg-2020-0024
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© 2020 Tokgun PE, Alay MT, Atli Tekin S, Güler N, Tokgun O, Demiray A, Karagenc N, Durak T, Celik B, Akca H, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Schematic representation of locations of the mutations on the CEBPA gene.
Schematic representation of locations of the mutations on the CEBPA gene.

Figure 2

(a) Sequence chromatogram showing the heterozygous c.221_222delAC mutation of the CEBPA gene.(b) Sequence chromatogram showing the heterozygous c.940_941insCCGTCGTGGAGACGACGAAGG mutation of the CEBPA gene.
(a) Sequence chromatogram showing the heterozygous c.221_222delAC mutation of the CEBPA gene.(b) Sequence chromatogram showing the heterozygous c.940_941insCCGTCGTGGAGACGACGAAGG mutation of the CEBPA gene.

Primer sequences used in the study_

PrimerSequences (5’>3’)
Exon 1 FAGG CTC GCC ATG CCG GGA GAA C
Exon 1 RGGC TCC TGC TTG ATC ACC AGC
Exon 2 FCTA CCT GGA CGG CAG GCT GGA G
Exon 2 RTCC ACC GAC TTC TTG GCC TTG C
Exon 3 FATG CAC CTG CAG CCC GGT CAC
Exon 3 RTAG AGT TGC CGG GCT CCC AGC T
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Temas de la revista:
Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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