ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

IF 4.5 3区医学 Q2 IMMUNOLOGY Clinical immunology Pub Date : 2024-06-22 DOI:10.1016/j.clim.2024.110294

Ashley Sang Eun Lee , Roshini S. Abraham , Amrita Basu , Howard Lederman , Charlotte Cunningham-Rundles

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在异常新生儿筛查中发现了ATAXIA-特朗吉特综合征，伴有复合杂合ATM突变。

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来源期刊

Clinical immunology 医学-免疫学

CiteScore

12.30

自引率

1.20%

发文量

212

审稿时长

34 days

期刊介绍： Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.

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