A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

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第一作者： Tiziana,Fioretti

第一单位： CEINGE - Advanced Biotechnologies, Naples, Italy.

作者： Tiziana,Fioretti ^[1] ; Silvana,Ungari ^[2] ; Maria,Savarese ^[1] ; Fabio,Cattaneo ^[3] ; Enza,Pirozzi ^[4] ; Gabriella,Esposito ^[1]

作者单位： CEINGE - Advanced Biotechnologies, Naples, Italy. ^[1] Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Azienda Ospedaliera S. Croce e Carle, Cuneo, Italy. ^[2] Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy. ^[3] Azienda Ospedaliera S. Croce e Carle, Cuneo, Italy. ^[4]

主题词衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);无脉络膜(Choroideremia);增强子元件, 遗传学(Enhancer Elements, Genetic);移码突变(Frameshift Mutation);人类(Humans);男(雄)性(Male);中年人(Middle Aged);表型(Phenotype);RNA剪接(RNA Splicing);RNA, 信使(RNA, Messenger)

DOI 10.1002/mgg3.1490

PMID 32949230

发布时间 2021-06-07

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Molecular genetics & genomic medicine

2020年8卷11期

e1490页

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A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

检索历史清除