Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.-论文-万方医学网

作者： Kate C,Verbeeten ^[1] ; Anne-Marie,Lamhonwah ^[2] ; Dennis,Bulman ^[3] ; Hanna,Faghfoury ^[4] ; P,Chakraborty ^[3] ; Ingrid,Tein ^[2] ; Michael T,Geraghty ^[5]

作者单位： University of Ottawa, Ottawa, ON, Canada. Electronic address: kverbeeten@cheo.on.ca. ^[1] University of Toronto, Toronto, ON, Canada; Dept. of Pediatrics, Laboratory Medicine and Pathobiology, University of Toronto, Canada; Genetics and Genome Biology Program, Hospital for Sick Children, University of Toronto, Canada. ^[2] University of Ottawa, Ottawa, ON, Canada; Newborn Screening Ontario, Canada; Children's Hospital of Eastern Ontario, Canada. ^[3] University of Toronto, Toronto, ON, Canada. ^[4] University of Ottawa, Ottawa, ON, Canada; Newborn Screening Ontario, Canada; Children's Hospital of Eastern Ontario, Canada. Electronic address: mgeraghty@cheo.on.ca. ^[5]

主题词 5'非翻译区(5' Untranslated Regions);肌动蛋白类(Actins);生物转运, 主动(Biological Transport, Active);心肌疾病(Cardiomyopathies);肉碱(Carnitine);细胞, 培养的(Cells, Cultured);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);成纤维细胞(Fibroblasts);杂合子(Heterozygote);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);纯合子(Homozygote);人类(Humans);高氨血症(Hyperammonemia);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);肌疾病(Muscular Diseases);突变(Mutation);新生儿筛查(Neonatal Screening);系谱(Pedigree);皮肤(Skin)

DOI 10.1016/j.ymgme.2019.12.006

PMID 31864849

发布时间 2022-12-07

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Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Molecular genetics and metabolism

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Molecular genetics and metabolism

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Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Molecular genetics and metabolism

相似文献

Molecular genetics and metabolism

相关期刊

检索历史清除