Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.
Gene
; 527(2): 537-40, 2013 Sep 25.
Article
en En
| MEDLINE
| ID: mdl-23850727
Palabras clave
ABRs; ACPTA; AbfB; Air conduction pure-tone average; Alpha-l-arabinofuranosidaseB-like domain; Auditory brainstem responses; Base pair; C-terminal cystine knot domain; C8; CT; CT scan; Computed tomography scan; Cysteine-rich domain; DNA; DPOAEs; Deep RNA sequencing; Deoxyribonucleic acid; Distortion product of otoacoustic emissions; EGF-like; Epidermal growth factor-like domain; Exome sequencing; GJB2; Gap junction beta-2 protein; Hearing impairment; IHCs; Inner ear; Inner hair cells; MYO7A; Micrograms; Myosin 7A; OHCs; OTOF; OTOG; OTOGL; Otoacoustic emissions; Otoferlin; Otogelin; Otogelin-like; Outer hair cells; SNP; SP; STRC; Signal peptide; Single Nucleotide Polymorphism Database; Single nucleotide polymorphism; Stereocilin; TIL; Trypsin inhibitor-like domain; bp; dB; dBSNP; decibel; kHz; kilo Hertz; vWF; von Willebrand factor-like domain; µg
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glicoproteínas de Membrana
/
Codón sin Sentido
/
Alelos
/
Trastornos de la Audición
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Gene
Año:
2013
Tipo del documento:
Article
País de afiliación:
Francia