一种导致β0型地中海贫血的新的密码子31（-C）突变体。

A new codon 31 (-C) mutant resulting in beta zero-thalassemia.

作者信息

Lin L I, Lin K S, Lin K H

机构信息

School of Medical Technology, College of Medicine, National Taiwan University, Taipei, Republic of China.

出版信息

Proc Natl Sci Counc Repub China B. 1992 Jan;16(1):6-9.

PMID:1631246

Abstract

A new beta zero-thalassemia mutation, a frameshift mutation with deletion of a single cytosine nucleotide in codon 31, is described. The propositus, which is compound heterozygous for this mutation and the 17 beta A-T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.

摘要

描述了一种新的β0地中海贫血突变，即密码子31处单个胞嘧啶核苷酸缺失的移码突变。先证者为该突变与17βA-Tβ0地中海贫血突变的复合杂合子，具有重型β地中海贫血的表型。