一名患有涉及PRF1突变（c.1091T>G）的复合杂合子PRF1缺陷的韩国婴儿患2型家族性噬血细胞性淋巴组织细胞增生症。 - Suppr

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超能文献

Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.

作者信息

Kim Min Sun, Cho Young Uk, Jang Seongsoo, Seo Eul Ju, Im Ho Joon, Park Chan Jeoung

机构信息

Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.

Department of Pediatrics, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.

出版信息

Ann Lab Med. 2017 Mar;37(2):162-165. doi: 10.3343/alm.2017.37.2.162.

DOI:10.3343/alm.2017.37.2.162

PMID:28029005

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5203996/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57c4/5203996/19bdd6cd7b7e/alm-37-162-g001.jpg

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