疑似遗传疾病的濒死期方案。
A perimortem protocol for suspected genetic disease.
作者信息
Kronick J B, Scriver C R, Goodyer P R, Kaplan P B
出版信息
Pediatrics. 1983 Jun;71(6):960-3.
PMID:6344000
Abstract
A considerable portion of pediatric deaths represent disease with risk of recurrence in subsequent family members. Procedures to obtain samples of body fluids and tissues suitable for diagnosis of mendelian and chromosomal disorders are described. These procedures, the "perimortem protocol," are used in studying children who died of suspected but undiagnosed genetic disease.
摘要
相当一部分儿童死亡病例所代表的疾病，在其后续家庭成员中有复发风险。本文描述了获取适合诊断孟德尔疾病和染色体疾病的体液和组织样本的程序。这些程序，即“死后检验方案”，用于研究死于疑似但未确诊遗传病的儿童。
Zotero 插件