Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
出版年份 2014 全文链接
标题
Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
作者
关键词
<em class=EmphasisTypeItalic >CORO1A</em> (Coronin-1A deficiency), SCID-CID, HPV-epidermodysplasia verruciformis, mucocutaneous, molluscum, leprosy, telomere, WES (whole exome sequencing)
出版物
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 34, Issue 7, Pages 871-890
出版商
Springer Nature
发表日期
2014-07-29
DOI
10.1007/s10875-014-0074-8
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