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

Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.

Blood cells, molecules & diseases - 1 Feb 2021

Zhou Puhui, Yu Man, Peng Yan, Ma Pengpeng, Wan Lagen

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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

Share to Afibrinogenemia
Share to Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrinogen

Share to Genetic Association Studies

Share to Models, Molecular

Share to Mutation, Missense

Share to Point Mutation

Source

Identifiers

PMID: 32877852
DOI: 10.1016/j.bcmd.2020.102489

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.PMID 32877852Read ↗

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.Semantic proximity Read ↗

Identification and characterization of novel mutations implicated in congenital fibrinogen disordersSemantic proximity Read ↗

Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.Semantic proximity Read ↗

Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia.Semantic proximity Read ↗

Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.Semantic proximity Read ↗

Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.Semantic proximity Read ↗

Human Fibrinogen: Molecular and Genetic Aspects of Congenital DisordersSemantic proximity Read ↗

Congenital Fibrinogen Deficiencies: Not So RareSemantic proximity Read ↗

Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population.Semantic proximity Read ↗

Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization.Semantic proximity Read ↗

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.Semantic proximity Read ↗

Unique de-novo mutation of fibrinogen gene in a Chinese girl with hypofibrinogenemia.Semantic proximity Read ↗

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