Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. [electronic resource]
Producer: 20160531Description: 5250-9 p. digitalISSN:- 1460-2083
- 3-Hydroxysteroid Dehydrogenases -- genetics
- Adolescent
- Adult
- Age of Onset
- Aldo-Keto Reductase Family 1 Member C3
- Cadherins -- genetics
- Child
- Child, Preschool
- Cluster Analysis
- Epilepsy -- blood
- Female
- Fibroblasts -- metabolism
- Gene Expression Profiling
- Gene Expression Regulation
- Gene Regulatory Networks
- Humans
- Hydroxyprostaglandin Dehydrogenases -- genetics
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Middle Aged
- Mutation
- Phenotype
- Pregnanolone -- blood
- Protocadherins
- Reproducibility of Results
- Signal Transduction
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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