Concepedia

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Norma B. Romero, Pascale de Lonlay, S. Llense, France Leturcq, Guy Touati, J-Andoni Urtizberea, Jean Marie Saudubray, Arnold Munnich, Jean Claude Kaplan, Dominique Récan

Neuromuscular Disorders · 2001 · 18 citations · 23 references

DOI

Concepts

References

23

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

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

, , +14

Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

Nobuo Takagi, Motomichi Sasaki · Nature · 1975 · 802 citations

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

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

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Somatic reversion/suppression of the mouse mdx phenotype in vivo

Eric P. Hoffman, Jennifer E. Morgan, Simon C. Watkins et al. · Journal of the Neurological Sciences · 1990 · 273 citations

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