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

[Analysis of a pedigree affected with hereditary coagulation factor XII deficiency due to a homozygous 252delAsn deletion of F12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Cheng Xiaoli, Yang Liu, Xin Yijuan, Zhu Lin, Su Mingquan, Hao Xiaoke

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency. METHODS: Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants...

Read the complete abstract on PubMed

Topics

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

Share to Factor XII
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 32619258
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of a pedigree affected with hereditary coagulation factor XII deficiency due to a homozygous 252delAsn deletion of F12 gene].PMID 32619258Read ↗

[Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency].Semantic proximity Read ↗

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

[Analysis of A Pedigree with Hereditary Coagulation Factor Ⅻ Deficiency Caused by Compound Heterozygous Mutations].Semantic proximity Read ↗

[Analysis of a pedigree affected with hereditary coagulation factor XI deficiency due to compound heterozygous variants of F11 gene].Semantic proximity Read ↗

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

[Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene].Semantic proximity Read ↗

[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency].Semantic proximity Read ↗

[Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].Semantic proximity Read ↗

[Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of F12 gene].Semantic proximity Read ↗

[Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree].Semantic proximity Read ↗

[Phenotypic and genetic analysis of a pedigree affected with hereditary FV deficiency due to a novel deletional variant of F5 gene].Semantic proximity Read ↗

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