Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

Item
http://www.wikidata.org/entity/Q50470202
Autosomal recessive nonsyndromic deafness genes: a reviewConnexin 26 mutations in autosomal recessive deafness disorders: a reviewAllele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)Genetics of auditory mechano-electrical transduction.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss AssociationExpression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.Deafness genes in Israel: implications for diagnostics in the clinic.Key functions for gap junctions in skin and hearing.Connexins and gap junctions in the inner ear--it's not just about K⁺ recyclingMechanisms linking connexin mutations to human diseases.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletionsDFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
P2860

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

Item
http://www.wikidata.org/entity/Q50470202
description
2005 nî lūn-bûn
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2005年の論文
@ja
2005年学术文章
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2005年学术文章
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2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Specific loss of connexin 26 e ...... with the deletion mutation del
@nl
Specific loss of connexin 26 e ...... n mutation del(GJB6-D13S1830).
@en
type
label
Specific loss of connexin 26 e ...... with the deletion mutation del
@nl
Specific loss of connexin 26 e ...... n mutation del(GJB6-D13S1830).
@en
prefLabel
Specific loss of connexin 26 e ...... with the deletion mutation del
@nl
Specific loss of connexin 26 e ...... n mutation del(GJB6-D13S1830).
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Specific loss of connexin 26 e ...... on mutation del(GJB6-D13S1830)
@en
P2093
P2860
P304
P31
P356
10.1111/J.1365-2230.2005.01878.X
P433
P478
P50
P577
P698