Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Annika Mårtensson; Sten Ivarsson; Anna Letelier; Eric Manderstedt; Christer Halldén; Rolf Ljung

doi:10.1111/cge.12709

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Annika Mårtensson, Sten Ivarsson, Anna Letelier, Eric Manderstedt, Christer Halldén, Rolf Ljung

Kristianstad University

Research output: Contribution to journal › Article › peer-review

Abstract

Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.

Original language	English
Pages (from-to)	63-68
Journal	Clinical Genetics
Volume	90
Issue number	1
DOIs	https://doi.org/10.1111/cge.12709
Publication status	Published - 2016

Subject classification (UKÄ)

Hematology

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10.1111/cge.12709

http://www.ncbi.nlm.nih.gov/pubmed/26661908?dopt=Abstract

Cite this

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title = "Origin of mutation in sporadic cases of severe haemophilia A in Sweden.",

abstract = "Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.",

author = "Annika M{\aa}rtensson and Sten Ivarsson and Anna Letelier and Eric Manderstedt and Christer Halld{\'e}n and Rolf Ljung",

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AU - Manderstedt, Eric

AU - Halldén, Christer

AU - Ljung, Rolf

PY - 2016

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AB - Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.

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DO - 10.1111/cge.12709

M3 - Article

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SN - 0009-9163

VL - 90

SP - 63

EP - 68

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Abstract

Subject classification (UKÄ)

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