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Public Health Genomics and Precision Health Knowledge Base (v6.0)
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Last data update: Dec 5, 2019
. (Total: 151218 Documents since 2001)
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Records 1-3
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Genetic Diseases, Inborn and MMP1[orginal query]
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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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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Page last reviewed:
Jul 30, 2019
Page last updated:
Dec 5, 2019
Content source:
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