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A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
- Source :
-
Human molecular genetics [Hum Mol Genet] 1994 Jun; Vol. 3 (6), pp. 1025-6. - Publication Year :
- 1994
- Subjects :
- Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 15
DNA blood
DNA Primers
Female
Humans
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction methods
Reference Values
Arginine
Cardiomyopathy, Hypertrophic genetics
DNA genetics
Glutamine
Myocardium metabolism
Myosins genetics
Point Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0964-6906
- Volume :
- 3
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Human molecular genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7848441
- Full Text :
- https://doi.org/10.1093/hmg/3.6.1025