A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patien...
A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patients with Autoimmune Lymphoproliferative Syndrome Represents a Founder Effect
About this item
Full title
Author / Creator
Publisher
Boston: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
Boston: Springer US
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More information
Scope and Contents
Contents
Mutations in the Fas gene (
TNFRSF6
) are the most common causes of Autoimmune Lymphoproliferative Syndrome (ALPS-FAS).
Purpose
In Argentina almost a third of patients with ALPS-FAS present a missense mutation affecting the extracellular cysteine rich domain 2 of Fas, p.Cys107Tyr (C107Y). This change was found in homozygous state in 2 p...
Alternative Titles
Full title
A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patients with Autoimmune Lymphoproliferative Syndrome Represents a Founder Effect
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1434016913
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1434016913
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-012-9731-y
