A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.

Simesen de Bielke, María Gabriela; Yancoski, Judith; Rocco, Carlos; Pérez, Laura E; Cantisano, Claudio; Pérez, Néstor; Oleastro, Matías; Danielian, Silvia

Simesen de Bielke, María Gabriela; Yancoski, Judith; Rocco, Carlos; Pérez, Laura E; Cantisano, Claudio; Pérez, Néstor; Oleastro, Matías; Danielian, Silvia.

Affiliation

Simesen de Bielke MG; Servicio de Inmunología y Reumatología, Hospital de Pediatría J. P. Garrahan, Buenos Aires, Argentina.

J Clin Immunol ; 32(6): 1197-203, 2012 Dec.

Article in En | MEDLINE | ID: mdl-22752343

Subject(s)

Autoimmune Lymphoproliferative Syndrome/genetics; Founder Effect; Mutation, Missense; Polymorphism, Single Nucleotide; fas Receptor/genetics; Adolescent; Adult; Alleles; Argentina; Autoimmune Lymphoproliferative Syndrome/pathology; Base Sequence; Case-Control Studies; Child; Female; Haplotypes; Heterozygote; Homozygote; Humans; Male; Microsatellite Repeats; Molecular Sequence Data; Pedigree; Protein Structure, Tertiary; Sequence Analysis, DNA

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Founder Effect / Fas Receptor / Mutation, Missense / Polymorphism, Single Nucleotide / Autoimmune Lymphoproliferative Syndrome Type of study: Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Country/Region as subject: America do sul / Argentina Language: En Journal: J Clin Immunol Year: 2012 Type: Article Affiliation country: Argentina

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