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

Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

Human genetics - 1 Feb 2000

Millar D S, Elliston L, Deex P, Krawczak M, Wacey A I, Reynaud J, Nieuwenhuis H K, Bolton-Maggs P, Mannucci P M, Reverter J C, Cachia P, Pasi K J, Layton D M, Cooper D N

Abstract excerpt

Factor X deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which a variable clinical presentation correlates poorly with laboratory phenotype. The factor X (F10) genes of 14 unrelated individuals with factor X deficiency (12 familial and two spora...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA Primers
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phenotype

Share to Polymorphism, Genetic

Share to RNA Splicing

Share to Sequence Deletion

Source

Identifiers

PMID: 10746568
DOI: 10.1007/s004390051035

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10746568-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of the genotype-phenotype relationship in factor X deficiency.PMID 10746568Read ↗

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.Semantic proximity Read ↗

Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del.Semantic proximity Read ↗

A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family.Semantic proximity Read ↗

Molecular genetic analysis of severe protein C deficiency.Semantic proximity Read ↗

How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency.Semantic proximity Read ↗

Two novel factor X gene mutations in a Chinese family with factor X deficiency.Semantic proximity Read ↗

A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX.Semantic proximity Read ↗

Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation.Semantic proximity Read ↗

Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders.Semantic proximity Read ↗

Homeologous recombination between AluSx-sequences as a cause of hemophiliaSemantic proximity Read ↗

Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion.Semantic proximity Read ↗

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.Semantic proximity Read ↗

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