Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures
| Autor: | Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, Boute, Odile, Choiset, Agnès, Lacombe, Didier, Philip, Nicole, Le Merrer, Martine, Tanaka, Hajime, Till, Marianne, Touraine, Renaud, Toutain, Annick, Vekemans, Michel, Munnich, Arnold, Lyonnet, Stanislas |
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| Zdroj: | In The American Journal of Human Genetics 2001 69(6):1370-1377 |
| Databáze: | ScienceDirect |
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