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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Abstract Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese...

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Principais autores: Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-01-01
Serier:BMC Medical Genetics
Fag:
Non-ketotic hyperglycinemia
In silico
GLDC gene
Multiplex ligation-dependent probe amplification
Online adgang:http://link.springer.com/article/10.1186/s12881-017-0517-1
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