Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'.
about
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in ChinaCongenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.
P2860
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@en
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@nl
type
label
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@en
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@nl
prefLabel
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@en
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@nl
P2093
P356
P1433
P1476
Sensori-neural deafness and hy ...... ing 'pseudo-Pendred syndrome'.
@en
P2093
Claudio Lunardi
Julian P H Shield
Nikki Davis
P2860
P304
P356
10.1159/000092513
P577
2006-03-21T00:00:00Z