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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and re...

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and re...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70471393

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

About this item

Full title

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Journal title

Human mutation, 2007-06, Vol.28 (6), p.540-553

Language

English

Formats

Publication information

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

More information

Scope and Contents

Contents

Fibrinogen is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aα, Bβ, and γ). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31. Congenital afibrinogenemia is characterized by the complete absence of fibrinogen, the precursor of the maj...

Alternative Titles

Full title

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_70471393

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70471393

Other Identifiers

ISSN

1059-7794

E-ISSN

1098-1004

DOI

10.1002/humu.20483

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