Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

Normal and altered pre-mRNA processing in the DMD gene

(2017) Sylvie Tuffery-Giraud et al.   HUMAN GENETICS

Next-generation sequencing-based detection of germline L1-mediated transductions

(2016) Jelena Tica et al.   BMC GENOMICS

Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene

(2016) Carlos Rodríguez-Martín et al.   JOURNAL OF HUMAN GENETICS

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

(2014) Rosário Santos et al.   JOURNAL OF HUMAN GENETICS

Duchenne and Becker Muscular Dystrophies

(2014) Kevin M. Flanigan   NEUROLOGIC CLINICS

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

(2013) Aliya Ishmukhametova et al.   HUMAN MUTATION

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family

(2011) L. Samuelov et al.   BRITISH JOURNAL OF DERMATOLOGY

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon

(2011) Szilvia Solyom et al.   HUMAN MUTATION

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

(2010) Hiroyuki Awano et al.   JOURNAL OF HUMAN GENETICS

NCBI BLAST: a better web interface

(2008) M. Johnson et al.   NUCLEIC ACIDS RESEARCH