SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
about
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueductsGenetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
P2860
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P2860
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
description
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name
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@en
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@nl
type
label
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@en
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@nl
prefLabel
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@en
SLC26A4 mutation frequency and ...... eport of nine novel mutations.
@nl
P2093
P2860
P356
P1433
P1476
SLC26A4 mutation frequency and ...... report of nine novel mutations
@en
P2093
E C Hansén
I Schrijver
J Rodriguez-Paris
L A A Nickelsen
L Tranebjaerg
N D Rendtorff
T Fagerheim
P2860
P304
P356
10.1111/CGE.12074
P50
P577
2013-01-22T00:00:00Z