Origin of the expansion mutation in myotonic dystrophy

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

Medicine, Genetics, Molecular Genetics +14

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +8

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +8

A second-generation linkage map of the human genome

Jean Weissenbach, Gàbor Gyapay, Colette Dib et al. · Nature · 1992 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14