Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

被引：349

作者：

Vulliamy, T ^{[1
]}

Marrone, A ^{[1
]}

Szydlo, R ^{[1
]}

Walne, A ^{[1
]}

Mason, PJ ^{[1
]}

Dokal, I ^{[1
]}

机构：

[1] Hammersmith Hosp, Imperial Coll London, Dept Haematol, Div Invest Sci, London W12 0NN, England

来源：

NATURE GENETICS | 2004年 / 36卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1346

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.

引用

页码：447 / 449

页数：3

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