TY  - JOUR
AU  - Domínguez Ruiz, María
AU  - Murillo Cuesta, Silvia
AU  - Contreras Rodríguez, Julio
AU  - Cantero, Marta
AU  - Garrido, Gema
AU  - Martín Bernardo, Belén
AU  - Gómez Rosas, Elena
AU  - Fernández, Almudena
AU  - Del Castillo, Francisco J.
AU  - Montoliu, Lluís
AU  - Varela Nieto, Isabel
AU  - Del Castillo, Ignacio
PY  - 2024
DO  - 10.1186/s12864-024-10289-z
SN  - 1471-2164
UR  - https://hdl.handle.net/20.500.14352/103199
T2  - BMC Genomics
AB  - Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small (< 1%) epidemiological contributions. The exception is GJB2, the gene encoding connexin‑26 and underlying DFNB1,...
LA  - eng
M2  - 1
PB  - BioMed Central
KW  - Inherited hearing impairment
KW  - DFNB1
KW  - GJB2
KW  - Connnexin-26
KW  - Murine models
TI  - A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study
TY  - journal article
VL  - 25
ER  -