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Article

Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

British journal of haematology - 1 Aug 1995

Windsor S, Lyng A, Taylor S A, Ewenstein B M, Neufeld E J, Lillicrap D

Abstract excerpt

A 2-year-old girl is described with severe haemophilia A (factor VIII: C < 0.01 units/ml). Both of her parents were phenotypically normal. Cytogenetic analysis on the proband demonstrated an interstitial X chromosome deletion encompassing Xq26-q28. Molecular studies with several polymorphic markers close to and within the factor VIII gene showed that the proband had inherited only the paternal factor VIII gene,...

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Identifiers

PMID: 7669670
DOI: 10.1111/j.1365-2141.1995.tb05213.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Severe haemophilia A in a female resulting from two de novo factor VIII mutations.PMID 7669670Read ↗

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