SLC26A4mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations-Reference-Cited by-同舟云学术

SLC26A4mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Published:2013-01-22 Issue:4 Volume:84 Page:388-391
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Rendtorff ND¹,Schrijver I²³,Lodahl M¹,Rodriguez-Paris J²,Johnsen T⁴,Hansén EC⁵,Nickelsen LAA¹,Tümer Z⁶,Fagerheim T⁷,Wetke R⁸,Tranebjaerg L¹⁹

Affiliation:

1. Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine; The Panum Institute, University of Copenhagen; Copenhagen Denmark

2. Department of Pathology

3. Department of Pediatrics; Stanford University School of Medicine; Stanford CA USA

4. Gl. Kongevej 25; Copenhagen Denmark

5. Audiologiska Klinikken Örebro Universitetssjukhuset; Örebro Sweden

6. Center for Applied Human Molecular Genetics; Kennedy Center; Glostrup Denmark

7. Division of Child and Adolescent Health, Department of Medical Genetics; University Hospital of North Norway; Tromsø Norway

8. Øre-Naese-Hals-Sygdomme, Afdeling H; Århus Sygehus; Århus Denmark

9. Department of Audiology; H:S Bispebjerg Hospital; Copenhagen Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference6 articles.

1. Alasti F Van Camp G Smith RJH. 1998 http://www.ncbi.nlm.nih.gov/books/NBK1467/

2. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA;Pera;Proc Natl Acad Sci U S A,2008

3. A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans;Mosrati;Eur J Med Genet,2011

4. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting;Chen;J Mol Diagn,2011

5. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA);Pourova;Ann Hum Genet,2010

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