New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Bomont and colleagues identified a novel ubiquitously expressed gene they named Gigaxonin on chromosome 16q24 as the...

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Detalhes bibliográficos
Main Authors: Houlden, Henry, Groves, Mike, Miedzybrodzka, Zosia, Roper, Helen, Willis, Tracey, Winer, John, Cole, Gaynor, Reilly, Mary M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2117591/
https://ncbi.nlm.nih.gov/pubmed/17578852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2007.118968
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