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.
F J
FJ
del Castillo
M
M
Rodríguez-Ballesteros
A
A
Alvarez
T
T
Hutchin
E
E
Leonardi
C A
CA
de Oliveira
H
H
Azaiez
Z
Z
Brownstein
M R
MR
Avenarius
S
S
Marlin
A
A
Pandya
H
H
Shahin
K R
KR
Siemering
D
D
Weil
W
W
Wuyts
L A
LA
Aguirre
Y
Y
Martín
M A
MA
Moreno-Pelayo
M
M
Villamar
K B
KB
Avraham
H-H M
HH
Dahl
M
M
Kanaan
W E
WE
Nance
C
C
Petit
R J H
RJ
Smith
G
G
Van Camp
E L
EL
Sartorato
A
A
Murgia
F
F
Moreno
I
I
del Castillo
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