Concepedia

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irène Boccaccio, Éliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour,

The American Journal of Human Genetics · 2007 · 159 citations · 52 references

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52

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.3K citations

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Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

Piotr Chomczyński, Nicoletta Sacchi · Analytical Biochemistry · 1987 · 46.9K citations

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.6K citations · Full text

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Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

H. Skre · Clinical Genetics · 1974 · 903 citations

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng et al. · Nature Genetics · 2001 · 732 citations

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