2024-03-28T14:45:58Z
http://repoint.unil.ch/oaiprovider/
oai:serval.unil.ch:BIB_148619F76195
2024-03-23T01:53:16Z
serval:BIB_148619F76195
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
10.1002/ajmg.a.37364
26358754
000367668600025
Lebrun
N.
author
Lebon
S.
author
Jeannet
P.Y.
author
Jacquemont
S.
author
Billuart
P.
author
Bienvenu
T.
author
article
casereport
2015
American Journal of Medical Genetics. Part A
1552-4833
1552-4825
journal
167A
12
3076-3081
Age of Onset
Brain Diseases/diagnosis
Brain Diseases/genetics
Cell Cycle Proteins/genetics
Chromosomal Proteins, Non-Histone/genetics
De Lange Syndrome/diagnosis
De Lange Syndrome/genetics
Epilepsy/diagnosis
Epilepsy/genetics
Female
Humans
Infant, Newborn
Mutation/genetics
Phenotype
Prognosis
RNA Splice Sites/genetics
RNA, Messenger/genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
eng
60_published
peer-reviewed
Publication types: Case Reports ; Journal Article
Publication Status: ppublish