Literature DB >> 11039585

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

F Sangiuolo1, E Bruscia, F Capon, S Servidei, B Dallapiccola, G Novelli.   

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.

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Year:  2000        PMID: 11039585     DOI: 10.1038/sj.ejhg.5200547

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  1 in total

1.  Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Authors:  Alessandra Ruggieri; Francesco Brancati; Simona Zanotti; Lorenzo Maggi; Maria Barbara Pasanisi; Simona Saredi; Chiara Terracciano; Carlo Antozzi; Maria Rosaria D Apice; Federica Sangiuolo; Giuseppe Novelli; Christian R Marshall; Stephen W Scherer; Lucia Morandi; Luca Federici; Roberto Massa; Marina Mora; Berge A Minassian
Journal:  Acta Neuropathol Commun       Date:  2015-07-25       Impact factor: 7.801

  1 in total

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