Characterization of genetic defects of hemophilia A in mainland China

Genetic analysis, techniques and applications Pub Date : 1999-12-15 DOI:10.1016/S1050-3862(99)00005-4

Y.Z. Zhang , J.X. Liu , H.Z. Shao , Z.W. Chi , H.L. Wang , S.J. Chen , Z. Chen , Z.Y. Wang , W. Huang

引用次数: 4

Abstract

Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.

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中国大陆A型血友病遗传缺陷的研究

采用Southern blotting、PCR、DGGE和DNA测序等方法对52例无亲缘关系的中国A型血友病患者进行基因突变研究。34例重症病例中有18例内含子22反转，13例有小基因病变，其中5例为新发。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Genetic analysis, techniques and applications

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