Article
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
European journal of human genetics : EJHG - 1 Dec 2009
Hantke Janina, Chandler David, King Rosalind, Wanders Ronald J A, Angelicheva Dora, Tournev Ivailo, McNamara Elyshia, Kwa Marcel, Guergueltcheva Velina, Kaneva Radka, Baas Frank, Kalaydjieva Luba
Abstract excerpt
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 approximately 70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this region, reducing it to approximately 26 kb of fully characterised sequence spanning the upstream...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.