Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

Author: Wurm Donald   Hänsgen Andrea   Kim Yoo-Jin   Lindinger Angelika   Baghai Ali   Gortner Ludwig  

Publisher: Springer Publishing Company

ISSN: 0340-6199

Source: European Journal of Pediatrics, Vol.166, Iss.4, 2007-04, pp. : 377-378

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