Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
del Castillo
F J
FJ
Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar km 9, 28034 Madrid, Spain.
Villamar
M
M
Moreno-Pelayo
M A
MA
Almela
J J
JJ
Morera
C
C
Adiego
I
I
Moreno
F
F
del Castillo
I
I
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D012362:RNA, Transfer, Ser / Q000235:genetics*; D013030:Spain
D004272:DNA, Mitochondrial; D012362:RNA, Transfer, Ser