Atıf İçin Kopyala
Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E., ...Daha Fazla
JOURNAL OF MEDICAL GENETICS, cilt.49, sa.6, ss.391-399, 2012 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
49
Sayı:
6
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Basım Tarihi:
2012
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Doi Numarası:
10.1136/jmedgenet-2012-100859
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Dergi Adı:
JOURNAL OF MEDICAL GENETICS
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.391-399
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Hacettepe Üniversitesi Adresli:
Evet
Özet
Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background.