Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Four cases of hypofibrinogenemia associated with four novel mutations.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2005

Hanss M, Ffrench P, Vinciguerra C, Bertrand M-A, Mazancourt P

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Afibrinogenemia
Share to DNA Mutational Analysis
Share to Fibrinogens, Abnormal
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16194209
DOI: 10.1111/j.1538-7836.2005.01580.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Four cases of hypofibrinogenemia associated with four novel mutations.PMID 16194209Read ↗

Novel human pathological mutations.Semantic proximity Read ↗

Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn).Semantic proximity Read ↗

Novel human pathological mutationsSemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.Semantic proximity Read ↗

Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions.Semantic proximity Read ↗

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.Semantic proximity Read ↗

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

Unusual clinical presentation and new mutation in a case of triple A syndrome.Semantic proximity Read ↗

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).Semantic proximity Read ↗

Expanding the Genotype of Sjögren-Larsson Syndrome: A New Case Due to Two Novel Mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.