Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

scientific article published on 01 August 1998

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S100480050040
P698PubMed publication ID10732802

P2093author name stringWang CH
Day JK
Bruinsma P
Papendick BD
P433issue4
P921main subjectspinal muscular atrophyQ580290
muscular atrophyQ2844600
P304page(s)273-276
P577publication date1998-08-01
P1433published inNeurogeneticsQ15710048
P1476titleIdentification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy
P478volume1

Reverse relations

cites work (P2860)
Q44519563A 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
Q35167319Advances in therapeutic development for spinal muscular atrophy
Q34314037Best practice guidelines for molecular analysis in spinal muscular atrophy
Q64912689Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Q37294791Embryonic motor axon development in the severe SMA mouse
Q48170209Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
Q44669542Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Q54432687Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.
Q34389556Quantitative 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
Q47885235SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.
Q33785933Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Q31096071Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Q30486481Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
Q46047462Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy

Search more.