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Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Marı́a J. Mazón, Francisco Barros, Pilar de la Peña, Juan Francisco Quesada‐Espinosa, Adela Escudero, Ana María Cobo, Samuel Ignacio Pascual Pascual, Eduardo Gutiérrez‐Rivas, Encarna Guillén‐Navarro, Javier Arpa,

Neuromuscular Disorders · 2011 · 36 citations · 32 references

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32

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

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

, , +8

X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity

Raimund Dutzler, Ernest B. Campbell, Martine Cadène et al. · Nature · 2002 · 1.6K citations

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of <i>ZNF9</i>

Christina L. Liquori, K. Ricker, Melinda L. Moseley et al. · Science · 2001 · 1.2K citations

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An efficient one-step site-directed and site-saturation mutagenesis protocol

Lei Zheng · Nucleic Acids Research · 2004 · 1.2K citations · Full text

, , +15