Concepedia

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

Maja von der Hagen, J. Schallner, Angela M. Kaindl, Katrin Koehler, P. Mitzscherling, Angela Abicht, Ulrike Grieben, Rudolf Korinthenberg, Arpad von Moers, Juliane Müller,

Neuromuscular Disorders · 2005 · 26 citations · 22 references

DOI

Concepts

References

22

An economic method for the fluorescent labeling of PCR fragments

Markus Schuelke · Nature Biotechnology · 2000 · 3.6K citations

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A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

M. Litt, J.A. Luty · PubMed · 1989 · 2K citations

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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 506 citations

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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer et al. · The American Journal of Human Genetics · 2005 · 312 citations · Full text

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