Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia.

doi:10.1046/j.1365-2141.2003.03986.x

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Article

Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia.

British journal of haematology - 1 Jan 2003

Akhavan Sepideh, Luciani Matteo, Lavoretano Silvia, Mannucci Pier Mannuccio

Abstract excerpt

We studied a 2-year-old boy with a phenotype of combined hypo- and dysprothrombinaemia. Sequencing of polymerase-chain-reaction-amplified genomic DNA revealed three different mutations in heterozygosity, a G to A transition at position 7312, resulting in the replacement of arginine 271 by histidine, an A to G transition at position 20058, resulting in the replacement of histidine 562 by arginine, and a 2-bp...

Topics

Heterozygote
Humans
Hypoprothrombinemias
Infant
Male
Phenotype
Point Mutation
Polymerase Chain Reaction
Prothrombin

Source

Open in PubMed

Identifiers

PMID: 12492590
DOI: 10.1046/j.1365-2141.2003.03986.x

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