A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Hereditary Motor and Sensory Neuropathy – Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to ∼70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this...

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Detaylı Bibliyografya
Asıl Yazarlar: Hantke, Janina, Chandler, David, King, Rosalind, Wanders, Ronald JA, Angelicheva, Dora, Tournev, Ivailo, McNamara, Elyshia, Kwa, Marcel, Guergueltcheva, Velina, Kaneva, Radka, Baas, Frank, Kalaydjieva, Luba
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2009
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987011/
https://ncbi.nlm.nih.gov/pubmed/19536174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.99
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