PatMol-DR
Patoloxía Molecular das Doenzas Raras
Publicacións (6) Publicacións nas que participase algún/ha investigador/a
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Genetics, Medical
2020
2019
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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics, Vol. 20, Núm. 2, pp. 73-82
2015
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Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
Neurobiology of Disease, Vol. 83, pp. 44-53
2010
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Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788
2006
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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336
2005
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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone
Journal of Clinical Endocrinology and Metabolism, Vol. 90, Núm. 3, pp. 1760-1767