Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Migliosi
V
V
Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar km 9, 28034 Madrid, Spain.
Modamio-Høybjør
S
S
Moreno-Pelayo
M A
MA
Rodríguez-Ballesteros
M
M
Villamar
M
M
Tellería
D
D
Menéndez
I
I
Moreno
F
F
Del Castillo
I
I
D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D005973:Glutamine / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D013030:Spain / Q000453:epidemiology; D013577:Syndrome
D005819:Genetic Markers; D008565:Membrane Proteins; C118457:OTOF protein, human; D005973:Glutamine