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Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: sanchez jimeno c. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
Sánchez-Jimeno C, Escámez MJ, Ayuso C, Trujillo-Tiebas MJ, Del Río M; en representación de la Cátedra de la Fundación Jiménez Díaz de Medicina Regenerativa y Bioingeniería Tisular, DEBRA-España y de otros profesionales sanitarios. Sánchez-Jimeno C, et al. Actas Dermosifiliogr (Engl Ed). 2018 Mar;109(2):104-122. doi: 10.1016/j.ad.2017.08.008. Epub 2017 Nov 26. Actas Dermosifiliogr (Engl Ed). 2018. PMID: 29180129 English, Spanish.
A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa.
Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Ayuso C, De Lucas R, Vicario JL, Conti CJ, Zambruno G, Escamez MJ, Del Rio M. Cuadrado-Corrales N, et al. Among authors: sanchez jimeno c. Dermatology. 2011;223(3):219-21. doi: 10.1159/000330331. Epub 2011 Aug 18. Dermatology. 2011. PMID: 21849769 Free article. No abstract available.
16 results