Characterization of Survival Motor Neuron (SMNT) Gene Deletions in Asymptomatic Carriers of Spinal Muscular Atrophy
CH Wang, J Xu, TA Carter, BM Ross… - Human molecular …, 1996 - academic.oup.com
… Spinal muscular atrophy (SMA) is a motor neuron disease characterized by degeneration
of spinal cord anterior horn cells and muscular atrophy. The autosomal recessive form of this …
of spinal cord anterior horn cells and muscular atrophy. The autosomal recessive form of this …
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
JG Chang, YJ Jong, SP Lin, BW Soong, CH Tsai… - Human genetics, 1997 - Springer
… deletions of two candidate genes for spinal muscular atrophy (SMA), the survival motor
neuron (SMN) and neuronal … An asymptomatic individual with homozygous deletion of exons 7 …
neuron (SMN) and neuronal … An asymptomatic individual with homozygous deletion of exons 7 …
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
B Wirth - Human mutation, 2000 - Wiley Online Library
… Spinal muscular atrophy (SMA) is characterized by degeneration of … Characterization of
survival motor neuron (SMNt) gene deletions in asymptomatic carriers of spinal muscular atrophy…
survival motor neuron (SMNt) gene deletions in asymptomatic carriers of spinal muscular atrophy…
[PDF][PDF] … analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and …
B Wirth, M Herz, A Wetter, S Moskau, E Hahnen… - The American Journal of …, 1999 - cell.com
… the telomeric survival motor neuron gene (SMN1). Here we present molecular genetic data
… Sequence analysis of SMN1 cDNA clones showed a complete deletion of exons 5 and 6. To …
… Sequence analysis of SMN1 cDNA clones showed a complete deletion of exons 5 and 6. To …
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the …
E Hahnen, J Schönling… - American journal of …, 1996 - ncbi.nlm.nih.gov
… We present the molecular analysis of 42 SMA patients who carry homozygous deletions
of telSMN exon 7 but not of … of survival motor neuron (SMNT) gene deletions in asymptomatic …
of telSMN exon 7 but not of … of survival motor neuron (SMNT) gene deletions in asymptomatic …
The survival motor neuron protein in spinal muscular atrophy
DD Coovert, TT Le, PE McAndrew… - Human molecular …, 1997 - academic.oup.com
… gene deletion or conversion of the sequences in the SMN T … Dosage analysis of the SMN
T gene indicates that the … serine to isoleucine at codon 262 in SMNT. Patient 6376 I-1 is …
T gene indicates that the … serine to isoleucine at codon 262 in SMNT. Patient 6376 I-1 is …
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
E Hahnen, J Schönling… - Human molecular …, 1997 - academic.oup.com
… Previous deletion analysis of telSMN in 191 SMA patients mainly of German origin has …
three families, we performed haplotype analysis with the polymorphic multicopy markers C212 …
three families, we performed haplotype analysis with the polymorphic multicopy markers C212 …
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
… the telomeric survival motor neuron gene (SMNt) in most patients, and deletion of the neuronal
… The results of the analysis of SMNt and NAIP genotypes for 143 SMA patients, 200 SMA …
… The results of the analysis of SMNt and NAIP genotypes for 143 SMA patients, 200 SMA …
Spinal muscular atrophy: mutations, testing, and clinical relevance
MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
… of function of the survival motor neuron gene SMN1 on 5q13 but … genetic and phenotypic
analysis in Spanish spinal muscular … Deletions of the survival motor neuron gene in unaffected …
analysis in Spanish spinal muscular … Deletions of the survival motor neuron gene in unaffected …
[PDF][PDF] Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
PE McAndrew, DW Parsons, LR Simard… - The American Journal of …, 1997 - cell.com
… two SMNC genes in a second asymptomatic carrier (table 3) … survival motor neuron gene in
patients with spinal muscular … RNA deletions of the 5q13 region in spinal muscular atrophies…
patients with spinal muscular … RNA deletions of the 5q13 region in spinal muscular atrophies…