A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +16

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Anja A. T. Geisterfer-Lowrance, Susan Kass, G Tanigawa et al. · Cell · 1990 · 1.4K citations

Medicine, Genetics, Molecular Genetics +10

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

J Ott · PubMed · 1974 · 1K citations

Life Sciences, Biostatistics, Genetics +13

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

Ludwig Thierfelder, Hugh Watkins, Calum A. MacRae et al. · Cell · 1994 · 1K citations

Medicine, Genetics, Molecular Genetics +10

NEMALINE MYOPATHY

G. MILTON SHY, W. King Engel, Jeffrey T. Somers et al. · Brain · 1963 · 469 citations

Life Sciences, Biochemistry, Physiology +16