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Erich Roessler, Kenia B. El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel E. Pineda-Álvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen, Hubert J. Smeets, Ute Hehr, Claude Bendavid, Sherri Bale, Sylvie Odent, Véronique David and Maximilian Muenke The 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 synthesis Human Mutation 30

Version of Record online: 14 JUL 2009 | DOI: 10.1002/humu.21090

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