Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

@article{Gasparini1997LinkageOD,
  title={Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.},
  author={Paolo Gasparini and Xavier Estivill and V{\'i}ctor Volpini and Angela Totaro and Sergi Castellv{\'i}-Bel and Nancy Govea and Montse Mil{\`a} and Matteo Della Monica and Valerio Ventruto and Michele De Benedetto and Pietro Stanziale and Leopoldo Zelante and Elaine S Mansfield and Lodewijk A. Sandkuijl and Saul Surrey and Paolo M Fortina},
  journal={European journal of human genetics : EJHG},
  year={1997},
  volume={5 2},
  pages={83-8}
}
Recent studies show a susceptibility locus (DFNB1) responsible for non-syndromic neurosensory autosomal-recessive deafness (NSRD) mapping to the pericentromeric region of chromosome 13q. In order to better understand the frequency with which DFNB1 is the gene for deafness in our patient population and the role of DFNB1 in Caucasians, we performed a genetic linkage study with four microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 41 extracted citations

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Genetic testing and molecular biomarkers • 2010
View 6 Excerpts
Highly Influenced

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.

American journal of medical genetics. Part A • 2008
View 5 Excerpts
Highly Influenced

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India • 2016
View 1 Excerpt

Gap junctions in inherited human disease

Pflügers Archiv - European Journal of Physiology • 2010
View 1 Excerpt

Similar Papers

Loading similar papers…