Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

In this study, a consanguineous family with progressive myoclonus epilepsy (PME) was clinically examined and molecularly investigated to determine the molecular events causing disease. Since exclusion of known genes indicated that novel genes causing PME still remained unidentified, homozygosity map...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human genetics 2013-03, Vol.132 (3), p.275-283
Hauptverfasser:	Karkheiran, Siamak, Krebs, Catharine E., Makarov, Vladimir, Nilipour, Yalda, Hubert, Benjamin, Darvish, Hossein, Frucht, Steven, Shahidi, Gholam Ali, Buxbaum, Joseph D., Paisán-Ruiz, Coro
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Asparagine Aspartic Acid Biomedical and Life Sciences Biomedicine Cerebral Cortex - metabolism Chromosomes, Human, Pair 21 - genetics Collagen Type VI - genetics Collagen Type VI - metabolism Consanguinity Electroencephalography Epilepsy Female Gene expression Gene Function Genes Genetic aspects Homozygote Human Genetics Humans Iran Male Metabolic Diseases Middle Aged Molecular Medicine Mutation Myoclonic Epilepsies, Progressive - genetics Myoclonic Epilepsies, Progressive - physiopathology Myoclonus Original Investigation Pedigree Proteolysis Syndrome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!