Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.
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Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.Early detection of hearing lossAbsence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.The genetic bases for non-syndromic hearing loss among ChineseUnraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.
P2860
Q27317239-1F4256ED-7028-4403-8A8C-A9338E72AAD9Q30472998-52C27FCA-47E0-4C31-8903-F65D666D86B8Q34999808-083A2DA1-9C47-4D17-B451-B450ABB8CAD4Q35879586-8199656D-342E-446F-84EF-E4306CCDBF6DQ37206548-1EAB785F-AE17-4D5B-9B67-B8E9BE8153A8Q37269361-0813E128-36A7-432B-98A0-83452E944A5CQ38616996-46DC862B-7CCC-45AB-82EB-B8D6AE212246
P2860
Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-cn
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@zh-hans
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@zh-my
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@zh-sg
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2004年學術文章
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name
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@en
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@nl
type
label
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@en
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@nl
prefLabel
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@en
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@nl
P2093
P1433
P1476
Phenotypic variability of non- ...... 42-kb deletion involving GJB6.
@en
P2093
Andreas Gal
Christian Kothe
Götz Schade
Hanno Bolz
Markus Hess
Stefanie Ehmer
P356
10.1016/S0378-5955(03)00346-0
P577
2004-02-01T00:00:00Z