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Article

[A pathogenic mutation in the COPA gene causes a family of COPA syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jan 2020

Lin K Z, Zhang F F, Xiao J H

Abstract excerpt

1例主诉为"间断髋关节疼痛伴咳嗽2个月余"的患儿就诊于厦门大学附属第一医院儿科，经过基因检查确诊为COPA综合征，并发现1号染色体（1q23.2）新的COPA突变基因c.725T>C。COPA综合征临床罕见，现总结该患儿临床和实验室特点、基因检测结果、诊断及治疗过程，以加强临床对本病的认识。.

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Identifiers

PMID: 31905480
DOI: 10.3760/cma.j.issn.0578-1310.2020.01.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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