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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological c...

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological c...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1907553397

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

About this item

Full title

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

Publisher

United States: Public Library of Science

Journal title

PloS one, 2017-06, Vol.12 (6), p.e0178093-e0178093

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the influence of the p.A152T MAPT variant on the clinical and neuropathological features of these Basque GRN families.
We compared clinical characteristics of 1...

Alternative Titles

Full title

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1907553397

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1907553397

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0178093

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