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Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

The X-linked form of severe combined immunodeficiency (XSCID) is underdiagnosed because no methods have been available for detecting carriers. Although boys with XSCID are deficient in T cells, female carriers are immunologically normal. Carriers' normal immune function would be expected if all...

詳細記述

保存先:
書誌詳細
出版年:J Clin Invest
主要な著者: Puck, J M, Nussbaum, R L, Conley, M E
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 1987
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC424401/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2883199/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112967
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