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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
Peña‐Quintana, L., Scherer, G., Curbelo‐Estévez, M.L., Jiménez‐Acosta, F., Hartmann, B., La Roche, F., Meavilla‐Olivas, S., Pérez‐Cerdá, C., García‐Segarra, N., Giguère, Y., Huppke, P., Mitchell, G.A., Mönch, E., Trump, D., Vianey‐Saban, C., Trimble, E.R., Vitoria‐Miñana, I., Reyes‐Suárez, D., Ramírez‐Lorenzo, T., Tugores, A.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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Journal Article