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Severe prekallikrein deficiencies due to homozygous C529Y mutations
Dominique François1, Nawel Trigui, Guillaume Leterreux
1Laboratoire de Biologie Clinique, Hôpital Foch, Suresnes, France.
Abstract:
Two consecutive severe prekallikrein deficiencies were investigated. The first was identified in a 63-year-old patient admitted for ischemic stroke. The second deficiency was identified in a 38-year-old patient admitted for a second-trimester pregnancy loss. A homozygous C529Y mutation was identified for both cases, whereas they are unrelated and no consanguineous marriage is known from the patients. These data point to a possible high frequency of this mutation as a cause of prekallikrein deficiency.
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