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

Tytuł:: Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.
Autorzy:: Rocca FE; Cosenza, ISN-CNR, Mangone, Italy. />De Marco EV
Annesi F
Civitelli D
Provenzano G
Sproviero W
Scornaienchi V
Greco V
Tarantino P
Annesi G
Źródło:: Human genetics [Hum Genet] 2010 Apr; Vol. 127 (4), pp. 463.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: Berlin : Springer Verlag
Original Publication: Berlin, New York, Springer-Verlag.
MeSH Terms:: Epilepsies, Myoclonic/*genetics
Nerve Tissue Proteins/*genetics
Sodium Channels/*genetics
Amino Acid Substitution ; Base Sequence ; Codon/genetics ; Codon, Nonsense ; Humans ; Infant ; NAV1.1 Voltage-Gated Sodium Channel
Substance Nomenclature:: 0 (Codon)
0 (Codon, Nonsense)
0 (NAV1.1 Voltage-Gated Sodium Channel)
0 (Nerve Tissue Proteins)
0 (SCN1A protein, human)
0 (Sodium Channels)
Entry Date(s):: Date Created: 20100206 Date Completed: 20110506 Latest Revision: 20121115
Update Code:: 20240104
DOI:: 10.1007/s00439-010-0788-5
PMID:: 20135149
: Czasopismo naukowe

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