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Journal of Inherited Metabolic Disease

Volume 19, Number 2, 243-245, DOI: 10.1007/BF01799440

Official Journal of the

Society for the Study of Inborn Errors of Metabolism

Short Communication

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients

L. de Sanctis, M. Bruno, G. Bonetti, D. Cosseddu, L. Bisceglia, A. Ponzone and I. Dianzani

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