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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

166 related items for PubMed ID: 20108398

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  • 2. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    García M, Escamez MJ, Cuadrado-Corrales N, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M.
    Hum Genet; 2010 Jan; 127(1):116-7. PubMed ID: 20108428
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  • 4. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
    Hum Genet; 2009 Aug; 126(2):335. PubMed ID: 19694005
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  • 5. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic.
    Cuadrado-Corrales N, García M, Escámez MJ, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tieba MJ, Ayuso C, Del Río M.
    Hum Genet; 2010 Jan; 127(1):117. PubMed ID: 20108393
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  • 7. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Garcia M, Escamez MJ, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
    Hum Genet; 2009 Aug; 126(2):334-5. PubMed ID: 19694004
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  • 10. A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
    Suzuki S, Shimomura Y, Yamamoto Y, Kariya N, Shibuya M, Ito M, Fujiwara H.
    Br J Dermatol; 2006 Oct; 155(4):838-40. PubMed ID: 16965439
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  • 11. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
    Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R.
    Dermatology; 2010 Oct; 221(2):113-6. PubMed ID: 20523032
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  • 13. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.
    J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875
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  • 18. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
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  • 19. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.
    Chen M, Kasahara N, Keene DR, Chan L, Hoeffler WK, Finlay D, Barcova M, Cannon PM, Mazurek C, Woodley DT.
    Nat Genet; 2002 Dec; 32(4):670-5. PubMed ID: 12426566
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