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Article

Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2016

Mårtensson A, Letelier A, Halldén C, Ljung R

Abstract excerpt

INTRODUCTION: Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is important in genetic counselling, prenatal diagnosis and to predict risk of inhibitor development. AIMS: To study the mutation spectrum, frequency of unique recurrent mutations, genotype-phenotype association and inhibitor development in a population-based study of the complete Swedish haemophilia B...

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PMID: 26612714
DOI: 10.1111/hae.12854

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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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