Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dode, Catherine; Levilliers, Jacqueline; Dupont, Jean-Michel; De Paepe, Anne; Le Du, Nathalie; Soussi-Yanicostas, Nadia; Coimbra, Roney S.; Delmaghani, Sedigheh; Compain-Nouaille, Sylvie; Baverel, Francoise; Pecheux, Christophe; Le Tessier, Dominique; Cruaud, Corinne; Delpech, Marc; Speleman, Frank; Vermeulen, Stefan; Amalfitano, Andrea; Bachelot, Yvan; Bouchard, Philippe; Nature Genetics, 2003, vol. 33, issue 4, p 463, ISSN 10614036. ISBN 10614036.

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