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A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss -: art. no. e9
被引:37
作者
:
Nagy, I
论文数:
0
引用数:
0
h-index:
0
机构:
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
Nagy, I
Horváth, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
Horváth, M
Trexler, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
Trexler, M
Répássy, G
论文数:
0
引用数:
0
h-index:
0
机构:
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
Répássy, G
Patthy, L
论文数:
0
引用数:
0
h-index:
0
机构:
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
Patthy, L
机构
:
[1]
Hungarian Acad Sci, Biol Res Ctr, Inst Enzymol, H-1113 Budapest, Hungary
[2]
Semmelweis Univ, Fac Med, Dept Otorhinolaryngol Head & Neck Surg, H-1085 Budapest, Hungary
来源
:
JOURNAL OF MEDICAL GENETICS
|
2004年
/ 41卷
/ 01期
关键词
:
D O I
:
10.1136/jmg.2003.012286
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
[No abstract available]
引用
收藏
页数:3
相关论文
共 9 条
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A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
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de Kok, YJM
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van der Velde-Visser, SD
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→
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[1]
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
[J].
de Kok, YJM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
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;
Bom, SJH
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0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Bom, SJH
;
Brunt, TM
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0
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h-index:
0
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Brunt, TM
;
Kemperman, MH
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0
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h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Kemperman, MH
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van Beusekom, E
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0
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h-index:
0
机构:
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;
van der Velde-Visser, SD
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0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
van der Velde-Visser, SD
;
Robertson, NG
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0
引用数:
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h-index:
0
机构:
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Morton, CC
论文数:
0
引用数:
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h-index:
0
机构:
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Morton, CC
;
Huygen, PLM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Huygen, PLM
;
Verhagen, WIM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Verhagen, WIM
;
Brunner, HG
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Brunner, HG
;
Cremers, CWRJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Cremers, CWRJ
;
Cremers, FPM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
Cremers, FPM
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HUMAN MOLECULAR GENETICS,
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8
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:361
-366
[2]
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[J].
Fransen, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Fransen, E
;
Verstreken, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Verstreken, M
;
Verhagen, WIM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Verhagen, WIM
;
Wuyts, FL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Wuyts, FL
;
Huygen, PLM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Huygen, PLM
;
D'Haese, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
D'Haese, P
;
Robertson, NG
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Robertson, NG
;
Morton, CC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
Morton, CC
;
McGuirt, WT
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0
引用数:
0
h-index:
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