Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

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Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

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Q30376118-CDBCB10B-8034-4854-9487-B631B98CAD3E Q50431219-CCCD2DDB-0943-4AD4-9DA3-F5F6B060CCB5

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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

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http://www.wikidata.org/entity/Q57917032

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article

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im März 2011 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в березні 2011

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Novel splice-site mutation c.1 ...... nsanguineous Portuguese family

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Novel splice-site mutation c.1615-2A>G

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type

Item

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Novel splice-site mutation c.1 ...... nsanguineous Portuguese family

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Novel splice-site mutation c.1615-2A>G

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Novel splice-site mutation c.1 ...... nsanguineous Portuguese family

@en

Novel splice-site mutation c.1615-2A>G

@nl

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Novel splice-site mutation c.1 ...... nsanguineous Portuguese family

@en

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Eduardo Barreiros

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Felipe Moreno

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Helena Simões-Teixeira

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Luís Barreiros

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Marta Canas Marques

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

A comprehensive genetic map of the human genome based on 5,264 microsatellites

A mutation in PDS causes non-syndromic recessive deafness

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.

Pendred syndrome--100 years of underascertainment?

Method of predicting splice sites based on signal interactions

Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells.

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924-927

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scholarly article

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10.1002/AJMG.A.33740

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English

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155

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2011-03-17T00:00:00Z

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21416585

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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

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P2860

P2860

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

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P1476

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P2860

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P356

P407

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P577

P698

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

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P577

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