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A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain : SHORT REPORT

✍ Scribed by Kenji Iijima; Akihide Udagawa; Hironaka Kawasaki; Fumiyo Murakami; Tokio Shimomura; Shiro Ikawa

No coin nor oath required. For personal study only.

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Identification of a mutation associated

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Novel missense mutation in the coagulati

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Severe factor X deficiency due to a homo

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A common ancestral mutation (C128X) occu

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A novel mutation ofLHX3is associated wit

✍ Walter Bonfig; Heiko Krude; Heinrich Schmidt 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 228 KB