Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Dimitar N. Azmanov; Stefan J. Siira; T. Chamova; A. Kaprelyan; V. Guergueltcheva; Anne-Marie J. Shearwood; G. Liu; Bharti Morar; Oliver Rackham; Michael Bynevelt; M. Grudkova; Z. Kamenov; V. Svechtarov; I. Tournev; Luba Kalaydjieva; Aleksandra Filipovska

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Dimitar N. Azmanov, Stefan J. Siira, T. Chamova, A. Kaprelyan, V. Guergueltcheva, Anne-Marie J. Shearwood, G. Liu, Bharti Morar, Oliver Rackham, Michael Bynevelt, M. Grudkova, Z. Kamenov, V. Svechtarov, I. Tournev, Luba Kalaydjieva, Aleksandra Filipovska

Research output: Contribution to journal › Article › peer-review

47 Citations (Scopus)

Original language	English
Pages (from-to)	4302-4314
Number of pages	13
Journal	Human Molecular Genetics
Volume	25
Issue number	19
Publication status	Published - 1 Oct 2016

Cite this

Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A.-M. J., Liu, G., Morar, B., Rackham, O., Bynevelt, M., Grudkova, M., Kamenov, Z., Svechtarov, V., Tournev, I., Kalaydjieva, L., & Filipovska, A. (2016). Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Human Molecular Genetics, 25(19), 4302-4314.

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title = "Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement",

author = "Azmanov, {Dimitar N.} and Siira, {Stefan J.} and T. Chamova and A. Kaprelyan and V. Guergueltcheva and Shearwood, {Anne-Marie J.} and G. Liu and Bharti Morar and Oliver Rackham and Michael Bynevelt and M. Grudkova and Z. Kamenov and V. Svechtarov and I. Tournev and Luba Kalaydjieva and Aleksandra Filipovska",

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Azmanov, DN, Siira, SJ, Chamova, T, Kaprelyan, A, Guergueltcheva, V, Shearwood, A-MJ, Liu, G, Morar, B, Rackham, O, Bynevelt, M, Grudkova, M, Kamenov, Z, Svechtarov, V, Tournev, I, Kalaydjieva, L & Filipovska, A 2016, 'Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement', Human Molecular Genetics, vol. 25, no. 19, pp. 4302-4314.

TY - JOUR

T1 - Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

AU - Azmanov, Dimitar N.

AU - Siira, Stefan J.

AU - Chamova, T.

AU - Kaprelyan, A.

AU - Guergueltcheva, V.

AU - Shearwood, Anne-Marie J.

AU - Liu, G.

AU - Morar, Bharti

AU - Rackham, Oliver

AU - Bynevelt, Michael

AU - Grudkova, M.

AU - Kamenov, Z.

AU - Svechtarov, V.

AU - Tournev, I.

AU - Kalaydjieva, Luba

AU - Filipovska, Aleksandra

PY - 2016/10/1

Y1 - 2016/10/1

M3 - Article

SN - 1460-2083

VL - 25

SP - 4302

EP - 4314

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 19

ER -