Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term...
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
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Author / Creator
He, Ruxuan , Mo, Ruo , Shen, Ming , Kang, Lulu , Song, Jinqing , Liu, Yi , Chen, Zhehui , Zhang, Hongwu , Yao, Hongxin , Liu, Yupeng , Zhang, Yao , Dong, Hui , Jin, Ying , Li, Mengqiu , Qin, Jiong , Zheng, Hong , Chen, Yongxing , Li, Dongxiao , Wei, Haiyan , Li, Xiyuan , Zhang, Huifeng , Huang, Min , Zhang, Chunyan , Jiang, Yuwu , Liang, Desheng , Tian, Yaping and Yang, Yanling
Publisher
England: BioMed Central
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central
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More information
Scope and Contents
Contents
Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients, its correlation with phenotype has not been delineated. Here we aim to investigate the factors affecting variable phenotypes and outcome...
Alternative Titles
Full title
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Authors, Artists and Contributors
Author / Creator
Mo, Ruo
Shen, Ming
Kang, Lulu
Song, Jinqing
Liu, Yi
Chen, Zhehui
Zhang, Hongwu
Yao, Hongxin
Liu, Yupeng
Zhang, Yao
Dong, Hui
Jin, Ying
Li, Mengqiu
Qin, Jiong
Zheng, Hong
Chen, Yongxing
Li, Dongxiao
Wei, Haiyan
Li, Xiyuan
Zhang, Huifeng
Huang, Min
Zhang, Chunyan
Jiang, Yuwu
Liang, Desheng
Tian, Yaping
Yang, Yanling
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_bab1b2af79f54981bd3de6a782a70744
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bab1b2af79f54981bd3de6a782a70744
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01485-7
