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Mutations of the SLX4 gene in Fanconi anemia

Mutations of the SLX4 gene in Fanconi anemia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3345287

Mutations of the SLX4 gene in Fanconi anemia

About this item

Full title

Mutations of the SLX4 gene in Fanconi anemia

Publisher

New York: Nature Publishing Group US

Journal title

Nature genetics, 2011-02, Vol.43 (2), p.142-146

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Agata Smogorzewska and colleagues report mutations in
SLX4
in a new subtype of Fanconi anemia. SLX4 is an endonuclease involved in DNA maintenance and repair.
Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignanc...

Alternative Titles

Full title

Mutations of the SLX4 gene in Fanconi anemia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3345287

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3345287

Other Identifiers

ISSN

1061-4036,1546-1718

E-ISSN

1546-1718

DOI

10.1038/ng.750

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