Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topcu, Sarenur Gokben, Fusun Alehan, Johannes R. Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftJournal of Medical Genetics
Volym49
Utgåva6
Sidor (från-till)391-399
Antal sidor9
ISSN0022-2593
DOI
StatusPublicerad - 2012
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper

Citera det här

Kousi, Maria ; Anttila, Verneri ; Schulz, Angela ; Calafato, Stella ; Jakkula, Eveliina ; Riesch, Erik ; Myllykangas, Liisa ; Kalimo, Hannu ; Topcu, Meral ; Gokben, Sarenur ; Alehan, Fusun ; Lemke, Johannes R. ; Alber, Michael ; Palotie, Aarno ; Kopra, Outi ; Lehesjoki, Anna-Elina. / Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. I: Journal of Medical Genetics. 2012 ; Vol. 49, Nr. 6. s. 391-399.
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title = "Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene",
keywords = "NEURONAL CEROID-LIPOFUSCINOSIS, RECESSIVE TRAITS, HOMOZYGOSITY, 3111 Biomedicine",
author = "Maria Kousi and Verneri Anttila and Angela Schulz and Stella Calafato and Eveliina Jakkula and Erik Riesch and Liisa Myllykangas and Hannu Kalimo and Meral Topcu and Sarenur Gokben and Fusun Alehan and Lemke, {Johannes R.} and Michael Alber and Aarno Palotie and Outi Kopra and Anna-Elina Lehesjoki",
year = "2012",
doi = "10.1136/jmedgenet-2012-100859",
language = "English",
volume = "49",
pages = "391--399",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group Ltd",
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}

Kousi, M, Anttila, V, Schulz, A, Calafato, S, Jakkula, E, Riesch, E, Myllykangas, L, Kalimo, H, Topcu, M, Gokben, S, Alehan, F, Lemke, JR, Alber, M, Palotie, A, Kopra, O & Lehesjoki, A-E 2012, 'Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene', Journal of Medical Genetics, vol. 49, nr. 6, s. 391-399. https://doi.org/10.1136/jmedgenet-2012-100859

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. / Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topcu, Meral; Gokben, Sarenur; Alehan, Fusun; Lemke, Johannes R.; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina.

I: Journal of Medical Genetics, Vol. 49, Nr. 6, 2012, s. 391-399.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

AU - Kousi, Maria

AU - Anttila, Verneri

AU - Schulz, Angela

AU - Calafato, Stella

AU - Jakkula, Eveliina

AU - Riesch, Erik

AU - Myllykangas, Liisa

AU - Kalimo, Hannu

AU - Topcu, Meral

AU - Gokben, Sarenur

AU - Alehan, Fusun

AU - Lemke, Johannes R.

AU - Alber, Michael

AU - Palotie, Aarno

AU - Kopra, Outi

AU - Lehesjoki, Anna-Elina

PY - 2012

Y1 - 2012

KW - NEURONAL CEROID-LIPOFUSCINOSIS

KW - RECESSIVE TRAITS

KW - HOMOZYGOSITY

KW - 3111 Biomedicine

U2 - 10.1136/jmedgenet-2012-100859

DO - 10.1136/jmedgenet-2012-100859

M3 - Article

VL - 49

SP - 391

EP - 399

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 6

ER -