Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

Author： Ferrer-Bolufer Irene   Dalmau Jaime   Quiroga Ramiro   Oltra Silvestre   Orellana Carmen   Monfort Sandra   Roselló Mónica   Osa Alberto   Martinez Francisco  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.32, Iss.1, 2009-12, pp. : 349-353

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