AN IN-FRAME INSERTION IN THE PRION PROTEIN GENE IN FAMILIAL CREUTZFELDT-JAKOB DISEASE

被引：125

作者：

OWEN, F ^{[1
]}

POULTER, M ^{[1
]}

SHAH, T ^{[1
]}

COLLINGE, J ^{[1
]}

LOFTHOUSE, R ^{[1
]}

BAKER, H ^{[1
]}

RIDLEY, R ^{[1
]}

MCVEY, J ^{[1
]}

CROW, TJ ^{[1
]}

机构：

[1] CLIN RES CTR,HAEMOSTASIS RES GRP,HARROW HA1 3UJ,MIDDX,ENGLAND

来源：

MOLECULAR BRAIN RESEARCH | 1990年 / 7卷 / 03期

关键词：

Creutzfeldt-Jakob disease; Prion protein; Spongiform encephalopathy; Transmissible dementia;

D O I：

10.1016/0169-328X(90)90038-F

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horozontal transmission of the spongiform encephalopathics is discussed. © 1990.

引用

页码：273 / 276

页数：4

共 14 条

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