A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
del Castillo
F J
FJ
Rodríguez-Ballesteros
M
M
Alvarez
A
A
Hutchin
T
T
Leonardi
E
E
de Oliveira
C A
CA
Azaiez
H
H
Brownstein
Z
Z
Avenarius
M R
MR
Marlin
S
S
Pandya
A
A
Shahin
H
H
Siemering
K R
KR
Weil
D
D
Wuyts
W
W
Aguirre
L A
LA
Martín
Y
Y
Moreno-Pelayo
M A
MA
Villamar
M
M
Avraham
K B
KB
Dahl
H-H M
HH
Kanaan
M
M
Nance
W E
WE
Petit
C
C
Smith
R J H
RJ
Van Camp
G
G
Sartorato
E L
EL
Murgia
A
A
Moreno
F
F
del Castillo
I
I
D001315:Australia / Q000453:epidemiology; D001483:Base Sequence / Q000235:genetics; D001530:Belgium / Q000453:epidemiology; D001938:Brazil / Q000453:epidemiology; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018703:Founder Effect; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D006239:Haplotypes; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D017384:Sequence Deletion; D013030:Spain / Q000453:epidemiology; D006113:United Kingdom / Q000453:epidemiology; D014481:United States / Q000453:epidemiology
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26