Carrier detection for prenatal diagnosis of hemophilia A in Italian families.

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Article

Carrier detection for prenatal diagnosis of hemophilia A in Italian families.

Haematologica - 1 Jan 2000

Cappello N, Restagno G, Garnerone S, Gennaro C, Perugini L, Rendine S, Piazza A, Carbonara A

Abstract excerpt

BACKGROUND: The results obtained from a comparative analysis between phenotypic bioassays as the ratio of factor VIII: C clotting activity to factor VIII: C-related antigen, and DNA haplotypes from RFLP's TaqI/St14 and BclI/F8A in 12 hemophilia A (HeA) families are described. METHODS: DNA from He...

Topics

Alleles
DNA Mutational Analysis
Factor VIII
Female
Fetal Diseases
Genetic Carrier Screening
Genetic Markers
Haplotypes
Hemophilia A
Humans
Incidence
Italy
Lod Score
Male
Pedigree
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis
Risk

Source

Open in PubMed

Identifiers

PMID: 1358771

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1358771-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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