Natividad
Cuadrado Corrales
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (8)
2013
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A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes
Journal of Neurology, Vol. 260, Núm. 1, pp. 77-84
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Recessive dystrophic epidermolysis bullosa: The origin of the c.6527insC mutation in the Spanish population
British Journal of Dermatology
2010
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A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
BMC Medical Genetics, Vol. 11, Núm. 1
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic
Human Genetics
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Human Genetics
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Human Genetics
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Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
Journal of Investigative Dermatology, Vol. 130, Núm. 10, pp. 2407-2411
2009
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Human genetics, Vol. 126, Núm. 2, pp. 334