Concepedia

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

Janusz Zimowski, Magdalena Pawelec, Joanna Purzycka, Walentyna Szirkowiec, Jacek Zaremba

Journal of Human Genetics · 2017 · 13 citations · 20 references

DOI

Concepts

References

20

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Eric P. Hoffman, Corlee J. Bertelson, Anthony P. Monaco et al. · Cell · 1987 · 2.4K citations

, , +11

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

Anthony P. Monaco, Corlee J. Bertelson, Sabina Liechti‐Gallati et al. · Genomics · 1988 · 1.2K citations

, , +11

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

Alan H. Beggs, FrederickM. Boyce, LouisM. Kunkel · Human Genetics · 1990 · 695 citations

, , +14

The rate of spontaneous mutation of a human gene

J. B. S. Haldane · Journal of Genetics · 1935 · 524 citations

, , +9

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 365 citations · Full text

, , +14