[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen].

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

Back to search

Article

[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2005

Fang Yi, Wang Hong-Li, Wang Xue-Feng, Fu Qi-Hua, Wang Wen-Bin, Xie Shuang, Zhou Rong-Fu, Dai Jing, Wang Zhen-Yi

Abstract excerpt

Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen. To analyze the phenotype and genotype of a family with inherited afibrinogenemia, laboratory studies including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT) were tested in the proband and 9 family members. Fibrinogen (Fg) in...

Topics

Adult
Afibrinogenemia
Amino Acid Sequence
Base Sequence
Child
Codon, Nonsense
DNA Mutational Analysis
Female
Fibrinogen
Heterozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation, Missense

Source

Open in PubMed

Identifiers

PMID: 16403286

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Protein Structure, Secondary