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Jump to: 2016
Number of items: 2.
2016
Santer, René; Moulin, Marcel du; Shahinyan, Tatevik; Vater, Inga; Maier, Esther; Muntau, Ania C. und Steinmann, Beat
(2016):
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
In: Orphanet Journal of Rare Diseases
11:44
[PDF, 1MB]
Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger und Haack, Tobias B.
(2016):
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
In: American Journal of Human Genetics, Vol. 98, No. 2: pp. 358-362