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USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

OBJECTIVE: We present two patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). METHODS: One hundred ninety-four (194) Japanese subjects from unrelated and families were enrolled in the study. Targeted genomic enrichment and massively parallel sequen...

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Detaylı Bibliyografya
Yayımlandı:Ann Otol Rhinol Laryngol
Asıl Yazarlar: Moteki, Hideaki, Yoshimura, Hidekane, Azaiez, Hela, Booth, Kevin T., Shearer, A Eliot, Sloan, Christina M., Kolbe, Diana L., Murata, Toshinori, Smith, Richard J. H., Usami, Shin-ichi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4441826/
https://ncbi.nlm.nih.gov/pubmed/25743181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0003489415574070
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