Correlation between genotype and phenotype in patients with bi-allelicSLC26A4mutations-Reference-Cited by-同舟云学术

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Correlation between genotype and phenotype in patients with bi-allelicSLC26A4mutations

Published:2013-10-03 Issue:3 Volume:86 Page:270-275
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lee H.J.¹²,Jung J.³²,Shin J.W.¹⁴,Song M.H.¹,Kim S.H.¹,Lee J.-H.³,Lee K.-A.⁵,Shin S.⁵,Kim U.-K.⁶,Bok J.⁷,Lee K.-Y.⁸,Choi J.Y.¹²,Park H.J.⁴

Affiliation:

1. Department of Otorhinolaryngology

2. BK21 Project for Medical Science

3. Department of Pharmacology; Yonsei University College of Medicine; Seoul Republic of Korea

4. Soree Ear Clinics; Seoul Republic of Korea

5. Department of Laboratory Medicine; Yonsei University College of Medicine; Seoul Republic of Korea

6. Department of Biology, College of Natural Sciences; Kyungpook National University; Daegu Republic of Korea

7. Department of Anatomy; Yonsei University College of Medicine; Seoul Republic of Korea

8. Department of Otorhinolaryngology; Kyungpook National University; Daegu Republic of Korea

Funder

National Research Foundation of Korea (NRF)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness;Park;J Med Genet,2003

2. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China;Wang;Clin Genet,2007

3. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?;Choi;Hum Mutat,2009

4. 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

5. Heterogeneity in the processing defect of SLC26A4 mutants;Yoon;J Med Genet,2008

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