| P2093 | author name string | Wang Hong | |
| | Du Juan | |
| | Song Fang | |
| | Bai Jin-li | |
| | Jin Yu-wei | |
| | Li Er-zhen | |
| | Qu Yu-Jin | |
| P2860 | cites work | SMN oligomerization defect correlates with spinal muscular atrophy severity | Q74557706 |
| | Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families | Q74561322 |
| | Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations | Q77886714 |
| | A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins | Q80114053 |
| | New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations | Q80833713 |
| | [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy] | Q83618884 |
| | A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy | Q84033312 |
| | A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy | Q84970421 |
| | Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. | Q24539804 |
| | SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR | Q24599124 |
| | Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 |
| | Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis | Q30443030 |
| | Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy | Q33588368 |
| | A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients | Q34297206 |
| | Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population | Q34329535 |
| | In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes | Q34365948 |
| | Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling | Q34389556 |
| | Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. | Q34398775 |
| | An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. | Q34407787 |
| | Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? | Q34425819 |
| | Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). | Q34426727 |
| | Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) | Q35210565 |
| | Spinal muscular atrophy diagnostics | Q36924710 |
| | Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy | Q37006949 |
| | Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. | Q40484524 |
| | Characterization of functional domains of the SMN protein in vivo | Q40778498 |
| | Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations | Q42037545 |
| | Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china | Q42709306 |
| | False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy | Q44232913 |
| | A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene | Q44519563 |
| | Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. | Q44669542 |
| | Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. | Q45867775 |
| | Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy | Q46825195 |
| | Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations | Q48170209 |
| | Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. | Q51467467 |
| | Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. | Q51538165 |
| | 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. | Q53344748 |
| | Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients. | Q54385321 |
| | Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. | Q54423373 |
| | The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. | Q54560146 |
| | Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I | Q71902152 |
| | An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN | Q73295491 |
| | Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy | Q73583326 |
| | A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy | Q73588971 |
| | Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA | Q73940792 |
| P304 | page(s) | 86 | |
| P577 | publication date | 2012-09-20 | |
| P1433 | published in | BMC Medical Genetics | Q15759918 |
| P1476 | title | Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. | |
| P478 | volume | 13 | |