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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

descriptionPublicationkeyboard_double_arrow_right Article 01 Feb 2012 English Publisher:Elsevier BVJournal:Journal of Dermatological Science, volume 65, pages 149-152 (issn: 0923-1811, Copyright policy )
Authors: Rodríguez, Fernando A; Gana, María José; Yubero, María Joao; Zillmann, Gisela; Krämer, Susanne M; Catalán, Javiera; Rubio-Astudillo, Julia; +8 Authors

doi: 10.1016/j.jdermsci.2011.11.010

pmid: 22209565

handle: 10533/130179

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Abstract

frodriguezr@med.uchile.cl; pconget@udd.cl

FONDECYT

65

2

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Keywords

Collagen Type VII, Heredity, DNA Mutational Analysis, Epidermolysis Bullosa Dystrophica, Phenotype, Gene Frequency, Case-Control Studies, VII COLLAGEN GENE, Mutation, Humans, Genetic Predisposition to Disease, Chile, Skin

  • BIP!
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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 16
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    		 Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    		 Average
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
16
Top 10%
Top 10%
Average
Green