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A Family of H723R Mutation for |
SungHee Kim, Dae Gun Song, Jae Woong Bae, Soo-Young Choi, Un-Kyung Kim, Young Jun Choi, Kyu Yup Lee, Sang Heun Lee, Jung Rae Lee |
Clinical and Experimental Otorhinolaryngology. 2009;2(2):100-102. Published online 2009 June 29 DOI: https://doi.org/10.3342/ceo.2009.2.2.100 |
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueducts Subgroups of enlarged vestibular aqueduct in relation toSLC26A4mutations and hearing loss Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome Enlarged vestibular aqueduct: Review of controversial aspects Preimplantation Genetic Diagnosis (Embryo Screening) for Enlarged Vestibular Aqueduct due to <i>SLC26A4</i> Mutation |
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