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

Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.

Thrombosis and haemostasis - 1 Apr 2006

Loreth Ralph M, El-Maarri Osman, Schröder Jörg, Budde Ulrich, Herrmann Falko H, Oldenburg Johannes

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Factor VIII
Share to Gonadal Dysgenesis, 46,XY
Share to Hemophilia A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homozygote

Share to Mutation, Missense

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 16601852

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.PMID 16601852Read ↗

Genetic causes of haemophilia in women and girls.Semantic proximity Read ↗

Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.Semantic proximity Read ↗

Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis.Semantic proximity Read ↗

[Genetic and prenatal diagnosis for a haemophilia A family with two novel mutations of F8 gene].Semantic proximity Read ↗

Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.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 ↗

A new mutation of ANO 6 in two familial cases of Scott syndromeSemantic proximity Read ↗

Association between phenotype and genotype in carriers of haemophilia A.Semantic proximity Read ↗

Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel MutationSemantic proximity Read ↗

A new hemophilia B mutation in the propeptide region of the FIX gene.Semantic proximity Read ↗

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

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