Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.-论文-万方医学网

作者： Shingo,Koyama ^[1] ; Hidenori,Sato ^[2] ; Manabu,Wada ^[2] ; Toru,Kawanami ^[2] ; Mitsuru,Emi ^[3] ; Takeo,Kato ^[2]

作者单位： Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan. skoyama@med.id.yamagata-u.ac.jp. ^[1] Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan. ^[2] Thoracic Oncology Program, University of Hawaii, Cancer Center, 701 Ilalo Street, Honolulu, HI, 96813, USA. ^[3]

主题词畸形, 多发性(Abnormalities, Multiple);衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);成年人(Adult);碱基序列(Base Sequence);脑(Brain);小脑(Cerebellum);细胞支架蛋白质类(Cytoskeletal Proteins);DNA(DNA);DNA突变分析(DNA Mutational Analysis);眼畸形(Eye Abnormalities);女(雌)性(Female);基因缺失(Gene Deletion);杂合子(Heterozygote);人类(Humans);日本(Japan);肾疾病, 囊性(Kidney Diseases, Cystic);磁共振成像(Magnetic Resonance Imaging);膜蛋白质类(Membrane Proteins);系谱(Pedigree);聚合酶链反应(Polymerase Chain Reaction);视网膜(Retina)

DOI 10.1186/s12881-017-0399-2

PMID 28347285

发布时间 2022-12-07

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Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.

BMC medical genetics

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BMC medical genetics

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Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.

BMC medical genetics

相似文献

BMC medical genetics

相关期刊

检索历史清除