Definition of mutations in polyautoimmunity

Objectives Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patt...

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Autores:

Tipo de recurso:

Fecha de publicación:

2016

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/22258

Acceso en línea:

https://doi.org/10.1016/j.jaut.2016.05.003
https://repository.urosario.edu.co/handle/10336/22258

Palabra clave:

Article
Autoimmunity
Exome
Gene mutation
Gene sequence
Genetic linkage
Genetic variation
Human
Pedigree analysis
Phenotype
Polyautoimmunity
Priority journal
Autoimmunity
DNA sequence
Family health
Female
Gene regulatory network
Genetic predisposition
Genetics
Genomics
Lod score
Male
Mutation
Nucleotide sequence
Pedigree
Procedures
ABC transporter
Carrier protein
DNA binding protein
RNA helicase
Urokinase receptor
ATP-Binding Cassette Transporters
Autoimmunity
Base Sequence
Carrier Proteins
DNA-Binding Proteins
Exome
Family Health
Female
Gene Regulatory Networks
Genetic Predisposition to Disease
Genomics
Humans
Lod Score
Male
Mutation
Pedigree
Phenotype
RNA Helicases
Extreme phenotype
Familial autoimmunity
Genetics
Linkage
Network analysis
Polyautoimmunity
DNA
Urokinase Plasminogen Activator
human
human
human
human
DHX34 protein
MLL4 protein
PLAUR protein
Steroid receptor RNA activator
Receptors
Sequence Analysis

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Abierto (Texto Completo)