HuGE Literature Finder
Records 1-7
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Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.
Archives of medical research 2014 Oct 45 (7): 596-9. Moreno-Treviño María G, León-Cachón Rafael B R, González-Salazar Francisco, Aguirre-Garza Marcelino, Cerda-Flores Ricardo M, Meester Irene, Salas-Alanis Julio |
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An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients.
International journal of dermatology 2014 Aug 53 (8): 985-90. Garza-Gómez Jorge, Cerda-Flores Ricardo M, Gómez-Flores Minerva, Salas-Alanís Julio C, Ocampo-Candiani Jorge, Martínez-Garza Laura E, South Andrew P, Gallardo-Blanco Hugo |
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A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
BMC medical genetics 2010 11 139. Cuadrado-Corrales Natividad, Sánchez-Jimeno Carolina, García Marta, Escámez María-José, Illera Nuria, Hernández-Martín Angela, Trujillo-Tiebas María-José, Ayuso Carmen, Del Rio Marce |
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Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
The British journal of dermatology 2009 Nov 161 (5): 1089-97. Kern J S, Grüninger G, Imsak R, Müller M L, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has |
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New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
Acta dermato-venereologica 2009 89 (1): 6-11. Almaani Noor, Liu Lu, Harrison Naomi, Tanaka Akio, Lai-Cheong Joey, Mellerio Jemima E, McGrath John |
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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.
The British journal of dermatology 2005 May 152 (5): 879-86. Csikós M, Szocs H I, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman |
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Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2002 Dec 119 (6): 1456-62. Gardella Rita, Castiglia Daniele, Posteraro Patrizia, Bernardini Silvia, Zoppi Nicoletta, Paradisi Mauro, Tadini Gianluca, Barlati Sergio, McGrath John A, Zambruno Giovanna, Colombi Mari |
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- Page last updated:Sep 16, 2021
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