Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene
Keyword(s):
Factor X
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SummaryThe genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated.
2001 ◽
Vol 73
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pp. 390-392
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2007 ◽
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pp. 113-117
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2020 ◽
2009 ◽
Vol 58
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pp. 320-325
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2014 ◽
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pp. 27-34
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pp. 647-650
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pp. 214
1999 ◽
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pp. 139-143
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