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Genetic Screening of ZNF687 and PFN1 in a Paget’s Disease of Bone Cohort Indicates an Important Role...

Genetic Screening of ZNF687 and PFN1 in a Paget’s Disease of Bone Cohort Indicates an Important Role...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2866757940

Genetic Screening of ZNF687 and PFN1 in a Paget’s Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687

About this item

Full title

Genetic Screening of ZNF687 and PFN1 in a Paget’s Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687

Publisher

New York: Springer US

Journal title

Calcified tissue international, 2023-11, Vol.113 (5), p.552-557

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Paget’s disease of bone (PDB) is a common, late-onset bone disorder, characterized by focal increases of bone turnover that can result in bone lesions. Heterozygous pathogenic variants in the
Sequestosome 1
(
SQSTM1
) gene are found to be the main genetic cause of PDB. More recently,
PFN1
and
ZNF687
have been identified as c...

Alternative Titles

Full title

Genetic Screening of ZNF687 and PFN1 in a Paget’s Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2866757940

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2866757940

Other Identifiers

ISSN

1432-0827,0171-967X

E-ISSN

1432-0827

DOI

10.1007/s00223-023-01137-5

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