Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Antibody class-switch recombination and somatic hypermutation critically depend on the function of activation-induced cytidine deaminase (AID). Rare variants in its gene AICDA have been reported to cause autosomal recessive AID deficiency (autosomal recessive hyper-IgM syndrome type 2 (HIGM2)). Exom...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Trotta, Luca, Hautala, Timo, Hämäläinen, Sari, Syrjänen, Jaana, Viskari, Hanna, Almusa, Henrikki, Lepisto, Maija, Kaustio, Meri, Porkka, Kimmo, Palotie, Aarno, Seppänen, Mikko, Saarela, Janna
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027683/
https://ncbi.nlm.nih.gov/pubmed/27142677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.37
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