First trimester diagnosis of cystinosis using intact chorionic villi.
作者信息
Patrick A D, Young E P, Mossman J, Warren R, Kearney L, Rodeck C H
出版信息
Prenat Diagn. 1987 Feb;7(2):71-4. doi: 10.1002/pd.1970070202.
PMID:3575264
Abstract
Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts.
摘要
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