Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

M. Gutierrez; I. Thiffault; K. Guerrero; G.A. Martos-Moreno; L.T. Tran; W. Benko; M. Knaap; R.M.L. van Spaendonk; N.I. Wolf; G. Bernard

doi:10.1186/s13023-015-0279-9

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

M. Gutierrez, I. Thiffault, K. Guerrero, G.A. Martos-Moreno, L.T. Tran, W. Benko, M. Knaap, R.M.L. van Spaendonk, N.I. Wolf, G. Bernard

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

Original language	Undefined/Unknown
Article number	69
Journal	Orphanet Journal of Rare Diseases
Volume	10
DOIs	https://doi.org/10.1186/s13023-015-0279-9
Publication status	Published - 2015

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10.1186/s13023-015-0279-9

Cite this

@article{d79a392345df40638fdaaecd9e7aaf78,

title = "Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy",

author = "M. Gutierrez and I. Thiffault and K. Guerrero and G.A. Martos-Moreno and L.T. Tran and W. Benko and M. Knaap and {van Spaendonk}, R.M.L. and N.I. Wolf and G. Bernard",

year = "2015",

doi = "10.1186/s13023-015-0279-9",

language = "Undefined/Unknown",

volume = "10",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central",

}

TY - JOUR

T1 - Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

AU - Gutierrez, M.

AU - Thiffault, I.

AU - Guerrero, K.

AU - Martos-Moreno, G.A.

AU - Tran, L.T.

AU - Benko, W.

AU - Knaap, M.

AU - van Spaendonk, R.M.L.

AU - Wolf, N.I.

AU - Bernard, G.

PY - 2015

Y1 - 2015

U2 - 10.1186/s13023-015-0279-9

DO - 10.1186/s13023-015-0279-9

M3 - Article

C2 - 26045207

VL - 10

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 69

ER -