We previously mapped a distinctive autosomal dominant vacuolar neuromyopathy on human chromosome 19p13 in an 8cM region, delimited by D19S209 and D19S177 markers. We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region.

Sangiuolo, F.C., Bruscia, E., Capon, F., Servidei, S., Dallapiccola, B., & Novelli, G. (2000). Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. EUROPEAN JOURNAL OF HUMAN GENETICS, 8(10), 809-812 [10.1038/sj.ejhg.5200547].

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

SANGIUOLO, FEDERICA CARLA;CAPON, FRANCESCA;NOVELLI, GIUSEPPE
2000

Abstract

We previously mapped a distinctive autosomal dominant vacuolar neuromyopathy on human chromosome 19p13 in an 8cM region, delimited by D19S209 and D19S177 markers. We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Chromosome Mapping; Chromosomes, Human, Pair 19; DNA; DNA Primers; Female; Gene Frequency; Genes, Dominant; Genotype; Haplotypes; Heterozygote; Humans; Lod Score; Male; Microsatellite Repeats; Muscles; Neuromuscular Diseases; Pedigree; Physical Chromosome Mapping; Polymerase Chain Reaction
Sangiuolo, F.C., Bruscia, E., Capon, F., Servidei, S., Dallapiccola, B., & Novelli, G. (2000). Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. EUROPEAN JOURNAL OF HUMAN GENETICS, 8(10), 809-812 [10.1038/sj.ejhg.5200547].
Sangiuolo, Fc; Bruscia, E; Capon, F; Servidei, S; Dallapiccola, B; Novelli, G
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/166512
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