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X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation.

作者信息

Amaral Joana Barroso, Paiva Artur Augusto, Ramos Fabiana Viana, Stasia Marie José, Lemos Sónia Gaspar

机构信息

Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Instituto Português de Sangue e Transplantação, Coimbra, Portugal; Unidade de Citometria de Fluxo, Serviço de Patologia Clínica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

出版信息

Ann Allergy Asthma Immunol. 2018 Mar;120(3):328-329. doi: 10.1016/j.anai.2017.12.006.

DOI:10.1016/j.anai.2017.12.006
PMID:29508720
Abstract
摘要

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X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients.女性患者中由于 X 染色体失活偏倚导致的 X 连锁慢性肉芽肿病。
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