Concepedia

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

Mi Ri Suh, Kyung‐A Lee, Eun Young Kim, Jiho Jung, Won Ah Choi, Seong‐Woong Kang

Yonsei Medical Journal · 2017 · 15 citations · 19 references

DOIFull text

Open access

Abstract

Our MLPA study of a large number of Korean patients with DMD/BMD identified the most frequent mutation hot spot, as well as a unique hot spot pattern. DMD gene mutation patterns do not appear to show significant ethnic differences.

References

19

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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

, , +9

Evidence‐based path to newborn screening for duchenne muscular dystrophy

Jerry R. Mendell, Chris Shilling, Nancy D. Leslie et al. · Annals of Neurology · 2012 · 790 citations

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Johan T. den Dunnen, P.M. Grootscholten, Egbert Bakker et al. · PubMed · 1989 · 505 citations

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

X Y Hu, Peter N. Ray, E. Gordon Murphy et al. · PubMed · 1990 · 235 citations