Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy

Autor:	F E, Rocca, E V, De Marco, F, Annesi, D, Civitelli, G, Provenzano, W, Sproviero, V, Scornaienchi, V, Greco, P, Tarantino, G, Annesi
Rok vydání:	2010
Předmět:	NAV1.1 Voltage-Gated Sodium Channel Amino Acid Substitution Base Sequence Codon Nonsense Humans Infant Epilepsies Myoclonic Nerve Tissue Proteins Codon Sodium Channels
Zdroj:	Human genetics. 127(4)
ISSN:	1432-1203
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::22725968a257d909ae66139b27f363c5 https://pubmed.ncbi.nlm.nih.gov/20135149 Zobrazit plný text záznamu Full text from SpringerLink