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

Concepedia

J. David Brook, Mila E. McCurrach, H G Harley, Alan Buckler, Deanna M. Church, Hiroyuki Aburatani, Kent W. Hunter, Vincent P. Stanton, Jean-Paul Thirion, Thomas J. Hudson,

Cell · 1992 · 2.8K citations · 41 references

DOI

Concepts

Signal TransductionMendelian DisorderGenetic DisorderMedicineGeneticsMolecular BiologyDegenerative DiseaseMolecular BasisMyotonic DystrophyFamily Member

References

41

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990

BioinformaticsEngineeringInformation Retrieval+10

92.8K citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991

Breakpoint Cluster RegionFragile X SyndromeMendelian Disorder+11

3.5K citations

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

Developmental BiologySomatic VariantMendelian Disorder+6

2.8K citations

Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA

Charles Auffray, François Rougeon · European Journal of Biochemistry · 1980

2.7K citations

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

Sherman ParadoxGenome InstabilityGenetic Instability+12

2.1K citations