Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

scientific article published on 01 December 1996

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/5.12.1971
P698PubMed publication ID8968751

P2093author name stringG Neri
C Brahe
S Zappata
O Clermont
J Melki
F Tiziano
P433issue12
P304page(s)1971-1976
P577publication date1996-12-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleFrameshift mutation in the survival motor neuron gene in a severe case of SMA type I
P478volume5

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cites work (P2860)
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Q35167319Advances in therapeutic development for spinal muscular atrophy
Q28204816An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
Q38357309An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.
Q34314037Best practice guidelines for molecular analysis in spinal muscular atrophy
Q42850962Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy
Q34443974De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
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Q35119976Genetic Modifiers for Neuromuscular Diseases
Q43105089Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype
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Q38290136Identification of a cis-acting element for the regulation of SMN exon 7 splicing
Q35250646Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
Q47942380Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Q24539804Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
Q34386159Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family
Q48170209Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
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Q38301685Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
Q40948398Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).
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
Q73694633Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product
Q74557706SMN oligomerization defect correlates with spinal muscular atrophy severity
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Q42057739Spinal muscular atrophy: untangling the knot?
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