Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.

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作者信息

Steinherz R, Tietze F, Triche T, Modesti A, Gahl W A, Schulman J D

出版信息

N Engl J Med. 1982 Jun 17;306(24):1468-70. doi: 10.1056/NEJM198206173062407.

DOI:10.1056/NEJM198206173062407

PMID:7078591

Abstract

摘要

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Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.

N Engl J Med. 1982 Jun 17;306(24):1468-70. doi: 10.1056/NEJM198206173062407.

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PLoS One. 2012;7(8):e42840. doi: 10.1371/journal.pone.0042840. Epub 2012 Aug 13.

The history of cystinosis: lessons for clinical management.胱氨酸病的历史：临床管理的经验教训

Int J Nephrol. 2011;2011:929456. doi: 10.4061/2011/929456. Epub 2011 Oct 13.

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.运用生物化学与连锁分析相结合的方法对胱氨酸病基因进行高分辨率定位。

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Lysosomal cystine counter-transport in heterozygotes for cystinosis.胱氨酸病杂合子中的溶酶体胱氨酸逆向转运

Am J Hum Genet. 1984 Mar;36(2):277-82.

An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes.一种使用多形核白细胞检测胱氨酸病杂合子的改进方法。

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