Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

K. Alakurtti; E. Weber; R. Rinne; G. Theil; G.-J. de Haan; D. Lindhout; P. Salmikangas; P. Saukko; U. Lahtinen; A.E. Lehesjoki

Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Translated title of the contribution: Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

K. Alakurtti
, E. Weber
, R. Rinne
, G. Theil
, G.-J. de Haan
, D. Lindhout
, P. Salmikangas
, P. Saukko
, U. Lahtinen
, A.E. Lehesjoki

Department of Genetics

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

Translated title of the contribution	Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
Original language	Undefined/Unknown
Pages (from-to)	208-215
Number of pages	8
Journal	European Journal of Human Genetics
Volume	13
Publication status	Published - 2005

Cite this

@article{14c55c8562fa41a0b11652e0a703cdd9,

title = "Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations",

author = "K. Alakurtti and E. Weber and R. Rinne and G. Theil and \{de Haan\}, G.-J. and D. Lindhout and P. Salmikangas and P. Saukko and U. Lahtinen and A.E. Lehesjoki",

note = "correction EJHG 2005; 13:264",

year = "2005",

language = "Undefined/Unknown",

volume = "13",

pages = "208--215",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

TY - JOUR

T1 - Loss of lysomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

AU - Alakurtti, K.

AU - Weber, E.

AU - Rinne, R.

AU - Theil, G.

AU - de Haan, G.-J.

AU - Lindhout, D.

AU - Salmikangas, P.

AU - Saukko, P.

AU - Lahtinen, U.

AU - Lehesjoki, A.E.

N1 - correction EJHG 2005; 13:264

PY - 2005

Y1 - 2005

M3 - Article

SN - 1018-4813

VL - 13

SP - 208

EP - 215

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -