Publicacións nas que colabora con Marcela del Río Nechaevsky (9)

2013

  1. Recessive dystrophic epidermolysis bullosa: The origin of the c.6527insC mutation in the Spanish population

    British Journal of Dermatology

2011

  1. 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

  1. A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

    BMC Medical Genetics, Vol. 11, Núm. 1

  2. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic

    Human Genetics

  3. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

    Human Genetics

  4. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

    Human Genetics

  5. 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

  6. 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

  1. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

    Human genetics, Vol. 126, Núm. 2, pp. 334