Literature DB >> 22209565

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

Fernando A Rodríguez, María José Gana, María Joao Yubero, Gisela Zillmann, Susanne M Krämer, Javiera Catalán, Julia Rubio-Astudillo, Sergio González, Lu Liu, Linda Ozoemena, Jemima E Mellerio, Jemima M Mellerio, John A McGrath, Francis Palisson, Paulette Conget.   

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Year:  2011        PMID： 22209565     DOI： 10.1016/j.jdermsci.2011.11.010

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  4 in total

1.  Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

Authors:  Ángeles Mencía; Cristina Chamorro; Jose Bonafont; Blanca Duarte; Almudena Holguin; Nuria Illera; Sara G Llames; Maria José Escámez; Ingrid Hausser; Marcela Del Río; Fernando Larcher; Rodolfo Murillas
Journal:  Mol Ther Nucleic Acids       Date:  2018-01-31       Impact factor: 8.886

2.  Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.

Authors:  Jose Bonafont; Ángeles Mencía; Marta García; Raúl Torres; Sandra Rodríguez; Marta Carretero; Esteban Chacón-Solano; Silvia Modamio-Høybjør; Lucía Marinas; Carlos León; María J Escamez; Ingrid Hausser; Marcela Del Río; Rodolfo Murillas; Fernando Larcher
Journal:  Mol Ther       Date:  2019-03-15       Impact factor: 11.454

3.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

4.  The de novo genome assembly of Tapiscia sinensis and the transcriptomic and developmental bases of androdioecy.

Authors:  Peng Zhao; Guiliang Xin; Feng Yan; Huan Wang; Xiaolong Ren; Keith Woeste; Wenzhe Liu
Journal:  Hortic Res       Date:  2020-12-01       Impact factor: 6.793
  4 in total

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