Abstract
Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.
MeSH terms
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Adolescent
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Amino Acid Sequence
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Base Composition
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Base Sequence
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Child
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DNA Primers
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Exons
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Humans
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Introns
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Japan
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Male
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Membrane Proteins / chemistry
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Membrane Proteins / genetics*
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Molecular Sequence Data
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Muscular Dystrophies / genetics*
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Nuclear Proteins
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Polymerase Chain Reaction
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Protein Conformation
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Reference Values
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Sequence Deletion*
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Thymopoietins / chemistry
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Thymopoietins / genetics*
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X Chromosome
Substances
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DNA Primers
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Membrane Proteins
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Nuclear Proteins
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Thymopoietins
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emerin