Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

Primary ovarian insufficiency (POI) is a frequently occurring disease affecting women under 40 years old. Recently, we have analyzed unrelated POI women via whole exome sequencing (WES) and identified NOTCH2 mutations underlying possible functional effects. The present study involved reanalyzing of...

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Autores:
Tipo de recurso:
Fecha de publicación:
2019
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24228
Acceso en línea:
https://doi.org/10.1002/humu.23667
https://repository.urosario.edu.co/handle/10336/24228
Palabra clave:
Luciferase
Notch2 receptor
Notch2 receptor
Article
Female
Gene expression
Genotype phenotype correlation
Human
Missense mutation
Open reading frame
Premature ovarian failure
Priority journal
Whole exome sequencing
Amino acid sequence
Chemistry
Genetic predisposition
Genetic transcription
Genetics
Missense mutation
Premature ovarian failure
Amino acid sequence
Female
Genetic predisposition to disease
Humans
Primary ovarian insufficiency
Female infertility
Notch2 mutations
Primary ovarian insufficiency
Whole-exome sequencing
human
genetic
missense
notch2
Notch2 protein
Mutation
Receptor
Transcription
Rights
License
Abierto (Texto Completo)