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Autosomal Recessive 18 Deafness

mutation in harmonin

Also Known As:

Deafness, Autosomal Recessive 18; DFNB18

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deafness (Deaf Mutism)

Experts

1.	Elbaz, Colette: 1 article (11/2000)
2.	Guillaud, Laurent: 1 article (11/2000)
3.	Panthier, Jean Jacques: 1 article (11/2000)
4.	Petit, Christine: 1 article (11/2000)
5.	Simmler, Marie Christine: 1 article (11/2000)
6.	Verpy, Elisabeth: 1 article (11/2000)
7.	Zwaenepoel, Ingrid: 1 article (11/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 18 Deafness:

1.	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 10/22/1999 - "We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non-syndromic sensorineural deafness. "
2.	Complementary DNA (cDNA)IBA 10/22/1999 - "We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non-syndromic sensorineural deafness. "
3.	Glycoproteins (Glycoprotein)IBA 11/01/2000 - "Otog, the gene encoding otogelin, a glycoprotein specific to all the acellular membranes of the inner ear, is also localized to mouse Chr 7, but in a region more proximal to the twister mutation, homologous to the short arm of human Chr 11 (11p15) carrying the two deafness loci, DFNB18 and USH1C. "