Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
about
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Diversification of importin-α isoforms in cellular trafficking and disease statesTargeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.Importin α: functions as a nuclear transport factor and beyond
P2860
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P2860
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Autosomal recessive mutations ...... s and cerebellar malformation.
@ast
Autosomal recessive mutations ...... s and cerebellar malformation.
@en
type
label
Autosomal recessive mutations ...... s and cerebellar malformation.
@ast
Autosomal recessive mutations ...... s and cerebellar malformation.
@en
prefLabel
Autosomal recessive mutations ...... s and cerebellar malformation.
@ast
Autosomal recessive mutations ...... s and cerebellar malformation.
@en
P2093
P2860
P356
P1476
Autosomal recessive mutations ...... s and cerebellar malformation.
@en
P2093
Adam Spencer
Alex R Paciorkowski
Bryce M Paschal
Dalia Ghoneim
Emily Tuttle
Judy Weisenberg
Liu Lin Thio
Susan L Christian
P2860
P2888
P304
P356
10.1038/EJHG.2013.196
P577
2013-09-18T00:00:00Z