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...

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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
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