Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure
Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identifie...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2012
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/8769
- Acceso en línea:
- https://doi.org/10.1371/journal.pone.0033412
http://repository.urosario.edu.co/handle/10336/8769
- Palabra clave:
- Evolución & genética
Genoma humano
Genética
Cromosomas
Falla ovárica prematura
Genetic loci
Genotyping
Haplotypes
Homozygosity
Human families
Human genetics
Linkage analysis
Single nucleotide polymorphisms
- Rights
- License
- Abierto (Texto completo)