Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Journal article

Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating autosomal recessive motor and sensory neuropathy characterized by focally folded myelin sheaths in the peripheral nerve. We recently mapped the CMT4B gene to a 5-cM interval on chromosome 11q22, using homozygosity mapping and haplotype sharing analysis on a large inbred pedigree. In the present study, we report the construction of a YAC-based transcript map across the 5-cM critical region, including 26 YACs, 35 STSs, and 52 ESTs. ...

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Authors: Bolino, A; Levy, E; Muglia, M; Conforti, F; LeGuern, E

• Publication status: Published
• Journal: Genomics
• Volume: 63
• Issue: 2
• Pages: 271-278
• Publication date: 2000-01-01
• DOI: 10.1006/geno.1999.6088
• EISSN: 1089-8646
• ISSN: 0888-7543
• Language: English
• Keywords: Genes, Recessive; Male; Chromosomes, Artificial, Yeast; Humans; Female; Pedigree; Chromosomes, Human, Pair 11; Expressed Sequence Tags; Charcot-Marie-Tooth Disease; Physical Chromosome Mapping; Sequence Tagged Sites; Microsatellite Repeats