New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

STUDY QUESTION Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to pr...

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Autores:

Patiño, Liliana Catherine
Beau, Isabelle
Buitrago, July Constanza
González, Ronald
Suárez, Carlos Fernando
Patarroyo, Manue Alfonso
Delemer, Brigitte
Young, Jacques
Binart, Nadine
Laissue, Paul

Tipo de recurso:

Article of journal

Fecha de publicación:

2017

Institución:

Universidad de Ciencias Aplicadas y Ambientales U.D.C.A

Repositorio:

Repositorio Institucional UDCA

Idioma:

eng

OAI Identifier:

oai:repository.udca.edu.co:11158/2325

Acceso en línea:

https://academic.oup.com/humrep/article/32/7/1512/3823627

Palabra clave:

Oocitos
Células de la Granulosa
Folículo Ovárico
Sustitución de Aminoácidos
Receptores de Proteínas Morfogenéticas Óseas de Tipo 1
Estudios de Cohortes
Oocytes
Granullosa Cells
Ovarian Follicle
Amino Acid Substitution
Bone Morphogenetic Protein Receptors, Type I
Cohort Studies

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openAccess

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