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

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 deficien...

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Detalles Bibliográficos
Autores principales: Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839065/
https://www.ncbi.nlm.nih.gov/pubmed/27101822
http://dx.doi.org/10.1186/s13023-016-0415-1

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