Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome |
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| Authors: | Michel Bahuau,Claude Houdayer,Brigitte Assouline,Claudine Blanchet-Bardon,Martine Le Merrer,Stanislas Lyonnet,Sophie Giraud,Dominique Ré can,Hakima Lakhdar,Michel Vidaud,Dominique Vidaud |
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| Affiliation: | Laboratoire de Génétique Moléculaire JE 351DRED, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, Paris, France |
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| Abstract: | ![]()
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| Keywords: | NF1 Noonan syndrome protein truncation assay nonsense mutation CpG dinucleotide phenotypic association |
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