Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.

Gustafson, Kevin; Duncan, Jacque L; Biswas, Pooja; Soto-Hermida, Angel; Matsui, Hiroko; Jakubosky, David; Suk, John; Telenti, Amalio; Frazer, Kelly A; Ayyagari, Radha

Gustafson, Kevin; Duncan, Jacque L; Biswas, Pooja; Soto-Hermida, Angel; Matsui, Hiroko; Jakubosky, David; Suk, John; Telenti, Amalio; Frazer, Kelly A; Ayyagari, Radha.

Afiliação

Gustafson K; Ophthalmology, University of California, San Francisco, San Francisco, CA 94143-0730, USA. kevingustafson11@gmail.com.
Duncan JL; Ophthalmology, University of California, San Francisco, San Francisco, CA 94143-0730, USA. jacque.duncan@ucsf.edu.
Biswas P; REVA University, Bengaluru, Karnataka 560034, India. pobiswas@ucsd.edu.
Soto-Hermida A; Shiley Eye Institute, University of California, San Diego, La Jolla, CA 92093-0946, USA. pobiswas@ucsd.edu.
Matsui H; Shiley Eye Institute, University of California, San Diego, La Jolla, CA 92093-0946, USA. ashermida@ucsd.edu.
Jakubosky D; Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, CA 92093, USA. hmatsui@ucsd.edu.
Suk J; Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, CA 92093, USA. djakubos@ucsd.edu.
Telenti A; Shiley Eye Institute, University of California, San Diego, La Jolla, CA 92093-0946, USA. jjsuk@ucsd.edu.
Frazer KA; Human Longevity, Inc., San Diego, CA 92121, USA. atelenti@humanlongevity.com.
Ayyagari R; Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, CA 92093, USA. kafrazer@ucsd.edu.

Genes (Basel) ; 8(9)2017 08 24.

Article em En | MEDLINE | ID: mdl-28837078

Palavras-chave

genetics; retina; retinitis pigmentosa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Genes (Basel) Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos

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