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

Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family.

Hamostaseologie - 1 Dec 2020

Wang Yu, Zhang Haiyue, Liu Siqi, Ye Jiajia

Abstract excerpt

OBJECTIVE: To study the molecular basis of human coagulation factor XII (FXII) deficiency in a Chinese family. METHODS: Routine blood coagulation indexes were detected by a one-stage clotting method, whereas FXII antigen was detected by enzyme linked immunosorbent assay. DNA sequencing was applied to find mutations in the F12 gene. Bioinformatics and conservative analyses were performed to analyze possible...

Topics

Join the communities discussing this publication.

Asian People
Computational Biology
Heterozygote
Mutation
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32916752
DOI: 10.1055/a-1181-0390

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

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

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family.PMID 32916752Read ↗

Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency.Semantic proximity Read ↗

[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].Semantic proximity Read ↗

Genetic analysis of a pedigree with hereditary coagulation factor XII deficiencySemantic proximity Read ↗

Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency.Semantic proximity Read ↗

[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].Semantic proximity Read ↗

A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.Semantic proximity Read ↗

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.Semantic proximity Read ↗

Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.Semantic proximity Read ↗

Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency.Semantic proximity Read ↗

A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.Semantic proximity Read ↗

Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families.Semantic proximity Read ↗

Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.Semantic proximity Read ↗

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