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A systematic review and meta-analysis of GFAP gene variants in Alexander disease

A systematic review and meta-analysis of GFAP gene variants in Alexander disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a1c0b5bdba1c49318f81f15a964c9991

A systematic review and meta-analysis of GFAP gene variants in Alexander disease

About this item

Full title

A systematic review and meta-analysis of GFAP gene variants in Alexander disease

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2024-10, Vol.14 (1), p.24341-12, Article 24341

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Alexander disease (ALXDRD) is a rare neurodegenerative disorder of astrocytes resulting from pathogenic variants in the
GFAP
gene. The genotype-phenotype correlation remains elusive due to the variable expressivity of clinical manifestations. In an attempt to clarify the effects of
GFAP
variants in ALXDRD, numerous studies were collecte...

Alternative Titles

Full title

A systematic review and meta-analysis of GFAP gene variants in Alexander disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_a1c0b5bdba1c49318f81f15a964c9991

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a1c0b5bdba1c49318f81f15a964c9991

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-024-75383-4

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