A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of...

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Autores:

Tipo de recurso:

Fecha de publicación:

2017

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/24224

Acceso en línea:

https://doi.org/10.1093/hmg/ddx199
https://repository.urosario.edu.co/handle/10336/24224

Palabra clave:

Complementary DNA
DNA fragment
Follitropin
Luteinizing hormone
Messenger RNA
MSH4 protein
Protein
Thyrotropin
Unclassified drug
Cell cycle protein
Adult
Article
Case report
Cohort analysis
Controlled study
Exon skipping
Female
Follitropin blood level
Gene
Gene frequency
Gene mutation
Gene sequence
Genetic variation
Hela cell line
Heterozygosity
Heterozygote
Human
Human cell
Inheritance
Luteinizing hormone blood level
Menarche
Menstrual irregularity
MSH4 gene
Pedigree
Premature ovarian failure
Priority journal
Reverse transcription polymerase chain reaction
Sanger sequencing
Secondary amenorrhea
Segregation analysis
Thyrotropin blood level
Transvaginal echography
Uterus myoma
Chemistry
Early menopause
Exon
Genetics
Homozygote
Metabolism
Mutation
Premature ovarian failure
RNA splice site
Whole exome sequencing
Adult
Cell Cycle Proteins
Cohort Studies
Exons
Female
Homozygote
Humans
Mutation
Pedigree
Primary Ovarian Insufficiency
RNA Splice Sites
Whole Exome Sequencing
human
XX
Premature
MSH4 protein
Karyotype 46
Menopause

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