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Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24200
Abstract: Spinal muscular atrophy (SMA) is caused by biāallelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2…
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Keywords:
copy number;
versatile method;
sma;
smn2 ... See more keywords
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2
Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac260
Abstract: Spinal muscular atrophy (SMA) is a fatal neuromuscular disease caused by homozygous deletions or mutations of the SMN1 gene. SMN2 is a paralogous gene of SMN1 and a modifying gene of SMA. A better understanding…
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Keywords:
smn2;
spinal muscular;
smn2 exon;
muscular atrophy ... See more keywords
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1
Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000007836
Abstract: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe…
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Keywords:
discrepancy redetermination;
smn protein;
copy;
smn2 copy ... See more keywords
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2
Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158289
Abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1,…
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Keywords:
smn2;
spinal muscular;
variant smn2;
muscular atrophy ... See more keywords
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1
Published in 2022 at "Neural Regeneration Research"
DOI: 10.4103/1673-5374.339005
Abstract: [INLINE:1] Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with a high lethality rate in infants. Variants in the homologous genes survival of motor neuron (SMN)1 and SMN2 have been reported to be…
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Keywords:
smn2;
ucac motif;
smn2 exon;
expression ... See more keywords