Spectrum, frequency, and genotype–phenotype of mutations in SPATA7

PURPOSE: To describe the mutation spectrum of SPATA7 and associated ocular phenotypes. METHODS: As part of a continuing examination of the genetic basis of inherited ophthalmic diseases, sequencing variations in SPATA7 were identified in sequencing data from 5,090 probands. Mutations in SPATA7 were...

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Detalles Bibliográficos
Autores principales: Xiao, Xueshan, Sun, Wenmin, Li, Shiqiang, Jia, Xiaoyun, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925664/
https://www.ncbi.nlm.nih.gov/pubmed/31908400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925664/
https://www.ncbi.nlm.nih.gov/pubmed/31908400

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