title: EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
authors.affiliation: Department of Human Genetics, Radboud University MC, Nijmegen, the Netherlands.
authors.forename: Lies H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: Anne-Françoise
authors.initials: AF
authors.lastname: Roux
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005060:Europe; D056426:Genetic Loci / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008967:Molecular Biology; D025202:Molecular Diagnostic Techniques; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D017410:Practice Guidelines as Topic; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26