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Article

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.

Prenatal diagnosis - 1 Nov 1992

Schwartz M, Cooper D N, Millar D S, Kakkar V V, Scheibel E

Abstract excerpt

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA-->TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in...

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

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Source

Identifiers

PMID: 1362983
DOI: 10.1002/pd.1970121103

Genes

CGA

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.

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