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Refined mapping of the HMSNR critical gene region-construction of a high-density integrated genetic and physical map

Hantke, J; Rogers, T; French, L; Tournev, I; Guergueltcheva, V; Urtizberea, JA; ... Kalaydjieva, L; + view all (2003) Refined mapping of the HMSNR critical gene region-construction of a high-density integrated genetic and physical map. NEUROMUSCULAR DISORD , 13 (9) 729 - 736. 10.1016/S0960-8966(03)00098-1.

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Abstract

Hereditary motor and sensory neuropathy russe, a form of autosomal recessive Charcot-Marie-Tooth disease, is a rare disorder found in several Roma families front Europe. The gene has been mapped to a 1 Mb region on 10q22. Detailed analysis led to the exclusion of 22 candidate genes and the assembly of a high-density genetic map comprising 141 polymorphic markers. Extensive genotyping in an extended sample of affected families resulted in a 10-fold reduction of the critical hereditary motor and sensory neuropathy russe gene region, which is now contained within a single completely sequenced BAC clone. The fact that no sequence variant has been detected in the known genes in the critical region indicates that the hereditary motor and sensory neuropathy russe mutation affects a novel gene that remains to be identified. (C) 2003 Elsevier B.V. All rights reserved.

Type:Article
Title:Refined mapping of the HMSNR critical gene region-construction of a high-density integrated genetic and physical map
DOI:10.1016/S0960-8966(03)00098-1
Keywords:ARCMT, Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy Russe refined mapping, MARIE-TOOTH-DISEASE, DIFFERENTIATION-ASSOCIATED PROTEIN-1, AUTOSOMAL RECESSIVE FORM, SENSORY NEUROPATHY-LOM, HEREDITARY MOTOR, MUTATIONS, PERIAXIN, GYPSIES
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)

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