Progranulin mutations in Dutch familial frontotemporal lobar degeneration

被引：44

作者：

Bronner, Iraad F.

Rizzu, Patrizia

Seelaar, Harro

van Mil, Saskia E.

Anar, Burcu

Azmani, Asma

Kaat, Laura Donker

Rosso, Sonia

Heutink, Peter

van Swieten, John C.

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Human Genet, Sect Med Genom, NL-1081 BT Amsterdam, Netherlands

[2] Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, Amsterdam, Netherlands

[3] Erasmus MC Univ Med Ctr, Dept Neurol, Rotterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 03期

关键词：

PGRN; FTLD; mutations; neurodegeneration;

D O I：

10.1038/sj.ejhg.5201772

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.

引用

页码：369 / 374

页数：6

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