Ontology highlight
ABSTRACT:
SUBMITTER: Dantas VG
PROVIDER: S-EPMC4261959 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Dantas Vitor G L VG Lezirovitz Karina K Yamamoto Guilherme L GL Moura de Souza Carolina Fischinger CF Ferreira Simone Gomes SG Mingroni-Netto Regina C RC
Genetics and molecular biology 20141001 4
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites placed the chromosome 14 candidate region between markers D14S288 and D14S276 (8.85 cM) and the chromosome 22 near marker D22S283. Exome seque ...[more]