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rdf:type |
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lifeskim:mentions |
umls-concept:C0026847,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0205314,
umls-concept:C0332307,
umls-concept:C0679622,
umls-concept:C1367790,
umls-concept:C1416797,
umls-concept:C1420295,
umls-concept:C1511790,
umls-concept:C1514562,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
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pubmed:issue |
1
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pubmed:dateCreated |
2004-7-13
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pubmed:abstractText |
The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
13
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
146-9
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15249625-Amino Acid Sequence,
pubmed-meshheading:15249625-Amino Acid Substitution,
pubmed-meshheading:15249625-Cyclic AMP Response Element-Binding Protein,
pubmed-meshheading:15249625-DNA Mutational Analysis,
pubmed-meshheading:15249625-Exons,
pubmed-meshheading:15249625-Gene Deletion,
pubmed-meshheading:15249625-Genotype,
pubmed-meshheading:15249625-Humans,
pubmed-meshheading:15249625-Molecular Sequence Data,
pubmed-meshheading:15249625-Mutation, Missense,
pubmed-meshheading:15249625-Nerve Tissue Proteins,
pubmed-meshheading:15249625-Pedigree,
pubmed-meshheading:15249625-Phenotype,
pubmed-meshheading:15249625-Point Mutation,
pubmed-meshheading:15249625-Protein Structure, Tertiary,
pubmed-meshheading:15249625-RNA-Binding Proteins,
pubmed-meshheading:15249625-SMN Complex Proteins,
pubmed-meshheading:15249625-Spain,
pubmed-meshheading:15249625-Spinal Muscular Atrophies of Childhood,
pubmed-meshheading:15249625-Survival of Motor Neuron 1 Protein
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pubmed:year |
2004
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pubmed:articleTitle |
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
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pubmed:affiliation |
Department of Genetics, University Hospital Sant Pau, Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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