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Material Type: Artigo
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mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisRoessler, Erich ; El-Jaick, Kenia B ; Dubourg, Christèle ; Vélez, Jorge I ; Solomon, Benjamin D ; Pineda-Álvarez, Daniel E ; Lacbawan, Felicitas ; Zhou, Nan ; Ouspenskaia, Maia ; Paulussen, Aimée ; Smeets, Hubert J ; Hehr, Ute ; Bendavid, Claude ; Bale, Sherri ; Odent, Sylvie ; David, Véronique ; Muenke, MaximilianHuman mutation, 2009-10, Vol.30 (10), p.E921-E935 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |