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A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
- Source :
-
Human genetics [Hum Genet] 1996 May; Vol. 97 (5), pp. 693-4. - Publication Year :
- 1996
-
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.
- Subjects :
- Adolescent
Amino Acid Sequence
Base Composition
Base Sequence
Child
DNA Primers
Exons
Humans
Introns
Japan
Male
Membrane Proteins chemistry
Molecular Sequence Data
Nuclear Proteins
Polymerase Chain Reaction
Protein Conformation
Reference Values
Thymopoietins chemistry
X Chromosome
Membrane Proteins genetics
Muscular Dystrophies genetics
Sequence Deletion
Thymopoietins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6717
- Volume :
- 97
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8655156
- Full Text :
- https://doi.org/10.1007/BF02281886