Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Juan Mateu, Jonàs ^a,b   González Quereda, Lidia ^a   Rodríguez, Maria José ^a   Verdura, Edgard ^a   Lázaro, Kira ^a   Jou, Cristina ^c   Nascimento, Andrés ^c   Jiménez Mallebrera, Cecilia ^c   Colomer, Jaume ^c   Monges, Soledad ^d   Lubieniecki, Fabiana ^d   Foncuberta, Maria Eugenia ^d   Pascual Pascual, Samuel Ignacio ^e   Molano, Jesús ^e   Baiget, Montserrat ^a   Gallano, Pia ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d Hospital Pediátrico Garrahan   (Argentina)

^e HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; MESSENGER RNA;

ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY GENE; DYSTROPHINOPATHY; EXON; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATOR GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PROTEIN EXPRESSION; RNA SPLICING; SIGNAL TRANSDUCTION;

DYSTROPHIN; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; RNA SPLICE SITES; RNA SPLICING;

EID: 84875440999     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0059916     Document Type: Article

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