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Identification of a case of -congenital disorder of glycosylation (CDG1Q) by exome sequencing.

作者信息

Gupta Neerja, Verma Gaurav, Kabra Madhulika, Bijarnia-Mahay Sunita, Ganapathy Aparna

机构信息

Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.

Department of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

出版信息

Indian J Med Res. 2018 Apr;147(4):422-426. doi: 10.4103/ijmr.IJMR_820_16.

DOI:10.4103/ijmr.IJMR_820_16
PMID:29998879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6057243/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eabc/6057243/2f798647f668/IJMR-147-422-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eabc/6057243/825c94cc4bca/IJMR-147-422-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eabc/6057243/2f798647f668/IJMR-147-422-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eabc/6057243/825c94cc4bca/IJMR-147-422-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eabc/6057243/2f798647f668/IJMR-147-422-g002.jpg

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J Hum Genet. 2016 Jun;61(6):515-22. doi: 10.1038/jhg.2016.4. Epub 2016 Feb 25.
2
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.由于SRD5A3基因无效突变导致的糖基化先天性疾病的表型扩展。
JIMD Rep. 2016;26:7-12. doi: 10.1007/8904_2015_478. Epub 2015 Jul 29.
3
Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction.
SRD5A3-CDG：一种超罕见先天性糖基化障碍亚型的新出现的表型特征
Front Genet. 2021 Dec 1;12:737094. doi: 10.3389/fgene.2021.737094. eCollection 2021.
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Trends Biochem Sci. 2015 Jul;40(7):377-84. doi: 10.1016/j.tibs.2015.03.002. Epub 2015 Mar 31.
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Unity in diversity: an overview of the genomic anthropology of India.多元中的统一：印度基因组人类学概述
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