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Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative F...

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative F...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5796050

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

About this item

Full title

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

Publisher

Switzerland: MDPI AG

Journal title

International journal of molecular sciences, 2017-12, Vol.19 (1), p.100

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Congenital fibrinogen disorders are caused by mutations in one of the three fibrinogen genes that affect the synthesis, assembly, intracellular processing, stability or secretion of fibrinogen. Functional studies of mutant Bβ-chains revealed the importance of individual residues as well as three-dimensional structures for fibrinogen assembly and se...

Alternative Titles

Full title

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5796050

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5796050

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms19010100

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