Mutations inciscan confound genotype-phenotype correlations in hypertrophic cardiomyopathy
Open Access
- 1 June 2001
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (6), 385-388
- https://doi.org/10.1136/jmg.38.6.385
Abstract
No abstract availableThis publication has 12 references indexed in Scilit:
- Four novel mutations in the cystathionine ?-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotypeHuman Mutation, 1999
- Functional Analysis of Myosin Mutations That Cause Familial Hypertrophic CardiomyopathyBiophysical Journal, 1998
- Detection of Single-Nucleotide Polymorphisms with the WAVE™ DNA Fragment Analysis SystemGenetic Testing, 1997
- Sudden cardiac death in familial hypertrophic cardiomyopathy: are “benign” mutations really benign?Pathology, 1997
- A comprehensive genetic map of the human genome based on 5,264 microsatellitesNature, 1996
- Functional recovery of troponin I in a Drosophila heldup mutant after a second site mutation.Molecular Biology of the Cell, 1995
- Double mutant alleles: are they rare?Human Molecular Genetics, 1995
- Possible Gene Effect of a Mutant Cardiac β-Myosin Heavy Chain Gene on the Clinical Expression of Familial Hypertrophic CardiomyopathyBiochemical and Biophysical Research Communications, 1994
- Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.Circulation, 1994
- ‘Touchdown’ PCR to circumvent spurious priming during gene amplificationNucleic Acids Research, 1991