Article
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.
Orphanet journal of rare diseases - 21 Apr 2016
Santer René, du Moulin Marcel, Shahinyan Tatevik, Vater Inga, Maier Esther, Muntau Ania C, Steinmann Beat
Abstract excerpt
BACKGROUND: Fructose-1,6-bisphosphatase deficiency is a rare inborn error of metabolism affecting gluconeogenesis with only sporadic reports on its molecular genetic basis. RESULTS: We report our experience with mutation analysis in 14 patients (13 families) with fructose-1,6-bisphosphatase deficiency using conventional Sanger sequencing and multiplex ligation-dependent probe amplification analysis, and we...
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