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A Novel Two-Nucleotide Deletion of Gene Causing cblD Disease in a Chinese Family.

作者信息

Wang Chao, Zhang Yu-Qin, Zhang Shu-Hong, Meng Ying-Tao, Lin Shu-Xiang, Cai Chun-Quan, Shu Jian-Bo

机构信息

Department of Genetics, Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China.

Department of Neurology, Tianjin Children's Hospital, Tianjin 300134, China.

出版信息

Chin Med J (Engl). 2018 Oct 20;131(20):2477-2479. doi: 10.4103/0366-6999.243561.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d08/6202588/ec1c2ddf9f90/CMJ-131-2477-g001.jpg

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本文引用的文献

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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.
2
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.

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