Envejecimiento
BioAging
Carmen
Ayuso García
Publications dans lesquelles il/elle collabore avec Carmen Ayuso García (8)
2013
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Recessive dystrophic epidermolysis bullosa: The origin of the c.6527insC mutation in the Spanish population
British Journal of Dermatology
2011
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A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa
Dermatology, Vol. 223, Núm. 3, pp. 219-221
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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The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: C.6527insC disclosed as an unusually recurrent mutation
British Journal of Dermatology, Vol. 163, Núm. 1, pp. 155-161
2009
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Human genetics, Vol. 126, Núm. 2, pp. 334