Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
about
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.Assessment of copy number variations in the brain genome of schizophrenia patients.Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
P2860
Q34482877-8617BE0B-A73C-4E66-8C6C-BF31272D2205Q35805267-A6AC7A21-5C84-4B92-88FD-25B413069002Q38075436-FC69FD73-149F-42BE-A7F2-9B6AB55CE051Q39136036-12756A26-CDD7-4640-B604-1232273A5999Q40092559-036C5B59-A5AA-4832-B7AE-C31142C02C20Q47156246-0117465F-EA9A-4BF4-9376-B37264097586Q55022100-4A46EC5E-63D6-4911-95D8-490893F2D8C5
P2860
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@en
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@nl
type
label
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@en
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@nl
prefLabel
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@en
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
@nl
P2093
P2860
P50
P1433
P1476
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
@en
P2093
A Terracciano
B Dalla Bernardina
F Vigevano
P2860
P2888
P304
P356
10.1007/S10048-012-0342-9
P577
2012-09-06T00:00:00Z