A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism
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Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genetics of hearing loss: where are we standing now?Novel EYA1 variants causing Branchio-oto-renal syndrome.Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
P2860
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P2860
A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism
description
im März 2009 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 March 2009
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2009
@uk
name
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@en
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@nl
type
label
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@en
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@nl
prefLabel
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@en
A recurrentEYA1mutation causin ...... gnostics and disease mechanism
@nl
P2093
P356
P1476
A recurrent EYA1 mutation caus ...... gnostics and disease mechanism
@en
P2093
Blake C Papsin
Evan J Propst
Lucie Dupuis
Sandi Sodhi
P304
P356
10.1002/AJMG.A.32679
P407
P577
2009-03-01T00:00:00Z