Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32877852http://www.w3.org/2000/01/rdf-schema#comment"

Introduction

Congenital fibrinogen disorders are characterized by heterogeneous clinical manifestations with mutations in the fibrinogen gene cluster. We aimed to describe the molecular genetics and clinical manifestations of fibrinogen abnormalities and perform genotype-phenotype correlations.

Materials and methods

Genetic analysis of fibrinogen genes was performed by direct sequencing. The effect of the specific missense variants on fibrinogen structure and function was analyzed using PROVEAN and PolyPhen-2 algorithms and was predicted by protein modeling.

Results

Thirteen mutations, including five novel mutations, were identified in the three fibrinogen genes. There was poor correlation between genotypes and phenotypes. All but one of the novel mutations in subjects were predicted to be deleterious. Protein modeling predicted that multiple ienteractions with surrounding residues for novel variants were likely to result in congenital fibrinogen disorders.

Conclusion

This study in a relatively large cohort of Chinese patients with congenital fibrinogen disorders enabled the identification of five new fibrinogen missense mutations. In silico modeling may represent a valuable tool for understanding amino acid residues from novel variants leading to congenital fibrinogen disorders, but it should be followed by functional studies. Clinical presentation of fibrinogen disorders was variable, possibly due to genetic and environmental modifiers."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.org/dc/terms/identifier"doi:10.1016/j.bcmd.2020.102489"xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/author"Ma P."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/author"Wan L."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/author"Yu M."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/author"Zhou P."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/author"Peng Y."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/name"Blood Cells Mol Dis"xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/pages"102489"xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/title"Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders."xsd:string
http://purl.uniprot.org/citations/32877852http://purl.uniprot.org/core/volume"86"xsd:string
http://purl.uniprot.org/citations/32877852http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/32877852
http://purl.uniprot.org/citations/32877852http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/32877852
http://purl.uniprot.org/uniprot/#_A0A140VJJ6-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_A0A0S2Z3M3-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_A0A0S2Z3P3-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_A0A0S2Z3E8-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_A0A0S2Z3E9-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_B4E1D3-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_Q86Z09-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_P02671-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_P02675-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
http://purl.uniprot.org/uniprot/#_P02679-mappedCitation-32877852http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32877852
▶