A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease. - Suppr | 超能文献

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.

作者信息

Gomez-Lira M, Perusi C, Brutti N, Farnetani M A, Margollicci M A, Rizzuto N, Pignatti P F, Salviati A

机构信息

Istituto di Biologia e Genetica, Università di Verona, Italy.

出版信息

Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313.

DOI:10.1002/humu.1380060313

Abstract

摘要

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An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.HEXB基因中一种罕见的剪接突变与来自不同种族背景的患者截然不同的表型相关。

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P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.己糖胺酶β基因第278位密码子丙氨酸突变为缬氨酸可能导致己糖胺酶β折叠的致病性缺陷，进而引发桑德霍夫病。

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