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Results: 3
2 NOVEL (1334DELC AND 1363G TO A, G455R) MUTATIONS IN EXON-12 OF THE BETA-HEXOSAMINIDASE ALPHA-CHAIN GENE IN 2 PORTUGUESE PATIENTS
Authors: RIBEIRO MG PINTO RA SUZUKI K MIRANDA MCS
Citation: Mg. Ribeiro et al., 2 NOVEL (1334DELC AND 1363G TO A, G455R) MUTATIONS IN EXON-12 OF THE BETA-HEXOSAMINIDASE ALPHA-CHAIN GENE IN 2 PORTUGUESE PATIENTS, Human mutation, 10(5), 1997, pp. 359-360
CLINICAL, ENZYMATIC, AND MOLECULAR CHARACTERIZATION OF A PORTUGUESE FAMILY WITH A CHRONIC FORM OF G(M2)-GANGLIOSIDOSIS B1 VARIANT
Authors: RIBEIRO MG SONIN T PINTO RA FONTES A RIBEIRO H PINTO E PALMEIRA MM SAMIRANDA MC
Citation: Mg. Ribeiro et al., CLINICAL, ENZYMATIC, AND MOLECULAR CHARACTERIZATION OF A PORTUGUESE FAMILY WITH A CHRONIC FORM OF G(M2)-GANGLIOSIDOSIS B1 VARIANT, Journal of Medical Genetics, 33(4), 1996, pp. 341-343
ASSOCIATION OF SURFACTANT PROTEIN-C WITH ISOLATED ALVEOLAR TYPE-II CELLS
Authors: PINTO RA HAWGOOD S CLEMENTS JA BENSON BJ NAIDU A HAMILTON RL WRIGHT JR
Citation: Ra. Pinto et al., ASSOCIATION OF SURFACTANT PROTEIN-C WITH ISOLATED ALVEOLAR TYPE-II CELLS, Biochimica et biophysica acta, L. Lipids and lipid metabolism, 1255(1), 1995, pp. 16-22
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