Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

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作者： Fatma,Bastaki ^[1] ; Sami,Bizzari ^[2] ; Sana,Hamici ^[1] ; Pratibha,Nair ^[2] ; Madiha,Mohamed ^[1] ; Fatima,Saif ^[1] ; Ethar Mustafa,Malik ^[1] ; Mahmoud Taleb,Al-Ali ^[2] ; Abdul Rezzak,Hamzeh ^[2]

作者单位： Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE. ^[1] Centre for Arab Genomic Studies, Dubai, UAE. ^[2]

关键词 ALG13 ALG8 CDG Congenital disorder of glycosylation SRD5A3 carbohydrate-deficient glycoprotein syndrome

主题词阿拉伯人(Arabs);儿童(Child);密码子, 无义(Codon, Nonsense);先天性糖基化病(Congenital Disorders of Glycosylation);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);婴儿(Infant);男(雄)性(Male);突变, 误义(Mutation, Missense);阿拉伯联合酋长国(United Arab Emirates)

DOI 10.1111/ahg.12220

PMID 28940310

发布时间 2018-01-01

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Annals of human genetics

2018年82卷1期

35-47页

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Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Annals of human genetics

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Annals of human genetics

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Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Annals of human genetics

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Annals of human genetics

相关期刊

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