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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. / Schnittger, Susanne; Bacher, Ulrike; Haferlach, Claudia; Geer, Thomas; Müller, Peter; Mittermüller, Johann; Petrides, Petro; Schlag, Rudolf; Sandner, Reiner; Selbach, Johannes; Slawik, Hans Rainer; Tessen, Hans Werner; Wehmeyer, Jürgen; Kern, Wolfgang; Haferlach, Torsten.

In: HAEMATOLOGICA, Vol. 94, No. 3, 3, 2009, p. 414-418.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schnittger, S, Bacher, U, Haferlach, C, Geer, T, Müller, P, Mittermüller, J, Petrides, P, Schlag, R, Sandner, R, Selbach, J, Slawik, HR, Tessen, HW, Wehmeyer, J, Kern, W & Haferlach, T 2009, 'Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.', HAEMATOLOGICA, vol. 94, no. 3, 3, pp. 414-418. https://doi.org/10.3324/haematol.13223

APA

Schnittger, S., Bacher, U., Haferlach, C., Geer, T., Müller, P., Mittermüller, J., Petrides, P., Schlag, R., Sandner, R., Selbach, J., Slawik, H. R., Tessen, H. W., Wehmeyer, J., Kern, W., & Haferlach, T. (2009). Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. HAEMATOLOGICA, 94(3), 414-418. [3]. https://doi.org/10.3324/haematol.13223

Vancouver

Schnittger S, Bacher U, Haferlach C, Geer T, Müller P, Mittermüller J et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. HAEMATOLOGICA. 2009;94(3):414-418. 3. https://doi.org/10.3324/haematol.13223

Bibtex

@article{de103b7511f849deb9693a7f0d3e3ec6,
title = "Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.",
abstract = "To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p",
author = "Susanne Schnittger and Ulrike Bacher and Claudia Haferlach and Thomas Geer and Peter M{\"u}ller and Johann Mitterm{\"u}ller and Petro Petrides and Rudolf Schlag and Reiner Sandner and Johannes Selbach and Slawik, {Hans Rainer} and Tessen, {Hans Werner} and J{\"u}rgen Wehmeyer and Wolfgang Kern and Torsten Haferlach",
year = "2009",
doi = "10.3324/haematol.13223",
language = "Deutsch",
volume = "94",
pages = "414--418",
journal = "HAEMATOLOGICA",
issn = "0390-6078",
publisher = "Ferrata Storti Foundation",
number = "3",

}

RIS

TY - JOUR

T1 - Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

AU - Schnittger, Susanne

AU - Bacher, Ulrike

AU - Haferlach, Claudia

AU - Geer, Thomas

AU - Müller, Peter

AU - Mittermüller, Johann

AU - Petrides, Petro

AU - Schlag, Rudolf

AU - Sandner, Reiner

AU - Selbach, Johannes

AU - Slawik, Hans Rainer

AU - Tessen, Hans Werner

AU - Wehmeyer, Jürgen

AU - Kern, Wolfgang

AU - Haferlach, Torsten

PY - 2009

Y1 - 2009

N2 - To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p

AB - To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p

U2 - 10.3324/haematol.13223

DO - 10.3324/haematol.13223

M3 - SCORING: Zeitschriftenaufsatz

VL - 94

SP - 414

EP - 418

JO - HAEMATOLOGICA

JF - HAEMATOLOGICA

SN - 0390-6078

IS - 3

M1 - 3

ER -