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

Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs.

British journal of haematology - 1 Jan 1995

Mandalaki T, Koumbarelis E, Gialeraki A, Apostolou A

Abstract excerpt

We illustrate the usefulness of direct mutation detection for genetic counseling by showing its application to an extremely large mild haemophilia A pedigree (91 haemophiliacs) originating from the village of Aiani in Macedonia, northern Greece. The causative mutation has already been shown to be an A to T transversion in codon 280 of the FVIII gene which replaces Asn 280 (AAC) by Ile (ATC) and which creates a...

Topics

Base Sequence
Factor VIII
Female
Fertility
Genetic Carrier Screening
Greece
Hemophilia A
Humans
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7833265
DOI: 10.1111/j.1365-2141.1995.tb08932.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7833265-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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

Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs.PMID 7833265Read ↗

Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation.Semantic proximity Read ↗

Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country.Semantic proximity Read ↗

Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.Semantic proximity Read ↗

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.Semantic proximity Read ↗

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.Semantic proximity Read ↗

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.Semantic proximity Read ↗

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.Semantic proximity Read ↗

Molecular characterization of 16 hemophilia B families in Aragon, Spain.Semantic proximity Read ↗

Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis.Semantic proximity Read ↗

Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.Semantic proximity Read ↗

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A.Semantic proximity Read ↗

Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies.Semantic proximity Read ↗

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