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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
Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, BeatVolume:
11
Language:
english
Journal:
Orphanet Journal of Rare Diseases
DOI:
10.1186/s13023-016-0415-1
Date:
December, 2016
File:
PDF, 1.09 MB
english, 2016