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Journal article

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Abstract:

The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far the largest series of P102L patients so far reported. Microsatellite and genealo...

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Publication status:
Published

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Publisher copy:
10.1093/brain/awn202

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Journal:
Brain : a journal of neurology
Volume:
131
Issue:
Pt 10
Pages:
2632-2646
Publication date:
2008-10-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:9935fd0b-d396-407e-a346-aabca5784361
Source identifiers:
309130
Local pid:
pubs:309130

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