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

Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2015

Kim Hee-Jung, Lee Ki-O, Yoo Ki-Young, Kim Sun-Hee, Kim Hee-Jin

Abstract excerpt

Hemophilia B is an X-linked bleeding disorder caused by deficient coagulation factor IX from a mutation in the F9 gene. Here, we report a family with two brothers having severe hemophilia B inherited from a mother with low-level somatic mosaicism of a F9 mutation. The proband was a 2-year-old boy with severe hemophilia B from a hemizygous mutation of F9, c.464G>A (p.Cys155Tyr). He was the first child and was...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Factor IX

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Hemizygote

Share to Hemophilia B

Share to Mosaicism

Share to Mutation, Missense

Share to Siblings

Source

Identifiers

PMID: 25402191
DOI: 10.1097/MBC.0000000000000234

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.PMID 25402191Read ↗

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.Semantic proximity Read ↗

Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case ReportSemantic proximity Read ↗

Somatic mosaicism in hemophilia A: a fairly common event.Semantic proximity Read ↗

Somatic mosaicism and compound heterozygosity in female hemophilia B.Semantic proximity Read ↗

Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female.Semantic proximity Read ↗

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

Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels.Semantic proximity Read ↗

Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India.Semantic proximity Read ↗

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Semantic proximity Read ↗

Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.Semantic proximity Read ↗

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoterSemantic proximity Read ↗

A Novel Frameshift Mutation in F9 in a Mixed Breed Dog With Clinical Hemophilia BSemantic proximity Read ↗

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