| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K |
| P698 | PubMed publication ID | 10533061 |
| P2093 | author name string | Claustres M | |
| Demaille J | |||
| Chambert S | |||
| Tuffery-Giraud S | |||
| P433 | issue | 5 | |
| P304 | page(s) | 359-368 | |
| P577 | publication date | 1999-01-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects | |
| P478 | volume | 14 |
| Q55402449 | A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. |
| Q24240721 | Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathy |
| Q24817064 | Biased exon/intron distribution of cryptic and de novo 3' splice sites |
| Q33843901 | Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing |
| Q78705444 | Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases |
| Q34278933 | Dystrophin and mutations: one gene, several proteins, multiple phenotypes |
| Q42614868 | Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene |
| Q34391188 | Evolution of the exon-intron structure and alternative splicing of the MAGE-A family of cancer/testis antigens. |
| Q39256785 | Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders. |
| Q48006442 | Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase |
| Q34475657 | Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations |
| Q34639835 | Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes |
| Q42681900 | MET Exon 14 Alterations in Lung Cancer: Exon Skipping Extends Half-Life |
| Q37597858 | MET exon 14 juxtamembrane splicing mutations: clinical and therapeutical perspectives for cancer therapy |
| Q36952935 | Microarray-based mutation detection in the dystrophin gene |
| Q40312569 | Mini-dystrophin efficiently incorporates into the dystrophin protein complex in living cells |
| Q34815369 | Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization |
| Q34612043 | Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster |
| Q45885634 | Mutation spectrum leading to an attenuated phenotype in dystrophinopathies |
| Q48245959 | Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy |
| Q33905096 | Rapid direct sequence analysis of the dystrophin gene |
| Q52587708 | Small mutations of the DMD gene in Taiwanese families. |
| Q47816362 | Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences |
Search more.