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Severe poikilocytosis associated with a de novoα28 Arg→Cys mutation in spectrin

✍ Scribed by F. Lorenzo; E. Miraglia del Giudice; N. Alloisio; L. Morle; A. Forissier; S. Perrotta; G. Sciarratta; A. Iolascon; J. Delaunay

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Occurrence of the αI 22 Arg→His (CGT→CAT

✍ F. Baklouti; J. Marechal; L. Morle; N. Alloisio; R. Wilmotte; B. Pothier; M.-T. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 986 KB

A de novo mutation affecting human TrkB

✍ Yeo, Giles S H; Connie Hung, Chiao-Chien; Rochford, Justin; Keogh, Julia; Gray, 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 887 KB

A deletional frameshift mutation in spec

✍ R. Wilmotte; E. Miraglia del Giudice; J. Marechal; S. Perrotta; D. de Mattia; J. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 263 KB

De Novo Truncating Mutation in Kinesin 1

✍ Julien Tarabeux; Nathalie Champagne; Edna Brustein; Fadi F. Hamdan; Julie Gauthi 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 901 KB

Glucose-6-phosphate dehydrogenase Buenos

✍ Angelo Minucci; Paola Concolino; Francesca Vendittelli; Bruno Giardina; Cecilia 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 488 KB

Severe respiratory phenotype caused by a

✍ Tae-Hwan Kil; June-Bum Kim 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 218 KB