Publicaciones en las que colabora con ITZIAR ESTALELLA BELLART (4)
2008
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Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients
Journal of Human Genetics, Vol. 53, Núm. 5, pp. 460-466
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Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878
2007
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Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain
Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546
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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713