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[A rare transcription mutation (-90 C-->T) in a Chinese family with beta-thalassemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2003

Li Wen-jun, Lao Xiong-wu, Jai Shi-qi, Liang Feng-ai, Mo Qiu-hua, Ma Jian-ying, Xu Xiang-min

Abstract excerpt

OBJECTIVE: To identify a rare transcription mutation (C-->T) at position -90 of the beta-globin gene previously unreported in the beta-thalassemia carriers from a Chinese family. METHODS: In phenotype analysis, standard hematological techniques were used to measure RBC counts and Hb concentration. Reverse dot blot (RDB) analysis, which can simultaneously detect 18 known types of beta-thalassemia mutations in...

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PMID: 14669211

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