Giant axonal neuropathy: clinical and genetic study in six cases

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1. Aims: To...

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Bibliografiset tiedot
Päätekijät: Demir, E, Bomont, P, Erdem, S, Cavalier, L, Demirci, M, Kose, G, Muftuoglu, S, Cakar, A, Tan, E, Aysun, S, Topcu, M, Guicheney, P, Koenig, M, Topaloglu, H
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2005
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Paper
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739689/
https://ncbi.nlm.nih.gov/pubmed/15897506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.035162
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